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Syndromes of Orofacial
Region
Resource faculties:
Dr. Jyotsna Rimal
Additional Prof. and HOD
Dr. Iccha Kumar Maharjan
Associate Prof.
Dr. Sushma Pandey (Dhakal)
Associate Prof.
Presenter :
Abhinaya Luitel
JR- II
Department of Oral Medicine and Radiology 1
 Syndrome and symptom
 Common terminologies
 Cause of syndrome
 Clinical approach to syndrome
 Syndrome with deficient mandible
 Syndrome with deficient maxilla
 Syndrome with connective tissue deficiency
 Syndrome with congenital skin anomaly
 Syndrome which become apparent after infancy
 Syndromes associated with fibro-osseous lesions of jaws
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 Syndrome associated with red and white lesions of oral cavity
 Syndrome associated with facial nerve palsy
 Syndrome associated with mucopolysachharodosis
 Syndromes primarily associated with cleft lip/palate
 Miscellaneous syndromes
 Genetic services, counselling and screening
 Genetic clinic at BPKIHS
 Summary
 Conclusion
 MCQs
 References
C
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Syndrome
Recognized pattern of clinical abnormalities that have a single
cause.
(Rosalind Smyth, Textbook of Pediatrics, 2003)
Combining its two Greek roots (syn- + dramein), syndrome means
"running together“
*Merriam-Webster Medical Dictionary
4
Symptom vs Syndrome
5
Terminologies
 MALFORMATION: It is the defect due to localized error of morphogenesis
resulting in an abnormal shape or structure with the interference in
function. Eg: Cleft lip and palate.
 DEFORMATION: Arises not from an error in embryological development
but normal fetal growth is restricted. Eg: Low set ears
 ANOMALY: It is the deviation from normal same as malformation but
without interference in function. Eg. Peg shaped lateral, Enamel
hypoplasia. 6
 ANOMALAD: Recognized pattern of congenital abnormalities that may
have several different causes. Eg: Robin Anomalad (micrognathia, cleft
palate, posteriorly displaced tongue) may be a feature of Stickler’s
syndrome.
 ASSOCIATION: Combination of congenital abnormalities that occur
together at a frequency greater than by chance but do not appear to
recur in the family. Eg: CREST, SHORT
 SEQUENCE: Series of malformation that arise secondary to one specific
developmental incident. Eg: Robins Sequence
7
 AUTOSOMAL DOMINANT (AD): Inheritance of the
abnormal gene from only one parent can cause the disease.
 AUTOSOMAL RECESSIVE (AR): Inheritance of two copies of an
abnormal gene must be present in order for the disease or trait to
develop.
8
 X-LINKED DOMINANT (XD): Gene responsible for a genetic disorder is
located on the X chromosome, and only one copy of the allele is
sufficient to cause the disorder when inherited from a parent.
 X-LINKED RECESSIVE (XR): Inheritance in which a mutation in
a gene on the X chromosome causes the phenotype to be expressed
in males and in females who are homozygous for the gene mutation
9
Cause of syndrome
 When one or more chromosomes are missing or mutated, or if extra
chromosomes are present, the proteins may not get made, made
incorrectly, or too many may be made.
 Can cause abnormal development and growth and result in
a syndrome.
 Sometimes these abnormal genes or chromosomes are passed down
from a parent, and sometimes they occur spontaneously without reason
Michigan Medicine, 1500 E. Medical Center Drive Ann Arbor, MI 48109 734-936-4000
© copyright 2017 Regents of the University of Michigan
10
Clinical approach to diagnosis of syndrome
Clinical diagnosis
(History + Clinical signs +
knowledge of pattern of
abnormalities)
Rare:
Laboratory
examinations
Relatively common: General
population
Single palmar crease
Partial syndactyly of 2nd and
3rd toe
MINOR
clinical signs
Rare: General population
Cleft lip/ palate
Polydactyly
MAJOR
clinical signs
Management:
Communication skills and communication aids
Consent and autonomy
Access to care: comfort and positioning
Physical interventions: Restrains
Multidisciplinary approach
Regular follow up: Childhood to Adulthood.
11
Syndromes with Deficient
Mandible
12
Treacher Collins syndrome
(Mandibulofacial dysostosis, Franceschetti-Zwalen-Klein syndrome,
Treacher Collins-Franceschetti syndrome)
 Edward Treacher Collins: Opthalmologist, 1900
 Incidence: 1 in 25000 to 50000
 Inheritance: AD
 Mutation: TCOF1 (AD), POLR1C (AD, AR) or POLR1D (AR)
13
14
 Paranasal sinus and mastoid air spaces: small or unapparent
 One third: palatal cleft
 Occasional: Hypoplastic tooth, tooth agenesis, ectopic eruptions,
mental retardation, parotid aplasia, skeletal malformations,
cardiac anomalies.
Diagnosis: Clinical features, Imaging of craniofacial structures, molecular
genetic testing
Prenatal (if suspected): Amniocentesis, Chronic villus sampling
15
Management: Multidisciplinary approach
Pediatricians, Otolaryngologists, Oral physicians, Pedodontist,
Orthodontist, Prosthodontist, Oral surgeons, Plastic surgeon, Speech
therapist, Audiologists, Ophthalmologists, Psychologists, Geneticists.
 Esthetics: Reconstructive surgery
 Surgical closure of clefts
 Orthodontic treatment
 Prosthesis 16
Robin Sequence
(Pierre Robin Syndrome, Robin Anomalad)
 Lannelongue and Menard: 1891
 1 per 8500 live births.
 New De Novo genetic changes but when inherited AD
 Mutation: S0X9
17
Micrognathia
Glossoptosis
Cleft palate
18
 Labored inspirational breathing
 Cyanotic episodes in supine position
 Occasional: cardiac defects, ocular abnormalities, mental
retardation, ear malformation
Diagnosis: Clinical features, Imaging of craniofacial structures,
molecular genetic testing
Prenatal: Ultrasonography
19
Management: Multidisciplinary approach
Pediatricians, Otolaryngologists, Oral physicians, Pedodontist,
Orthodontist, Oral surgeons, Plastic surgeon, Speech therapist,
Psychologists, Geneticists.
 Infancy: breathing support and feeding assistance
 Surgical cleft closure
 Orthodontic treatment
 Cardiac defects: Infective endocarditis prophylaxis during invasive
dental procedures
20
Syndromes with
Deficient Maxilla
21
Crouzon Syndrome
(Craniofacial Dysostosis, Crouzon Disease, Apert Crouzon
Syndrome)
 Octave Crouzon: French physician, 1912
 Incidence: 1 per 60000 live birth
 Inheritance: AD
 Mutation: Fibroblast growth factor receptors (FGFR) 2
22
Craniosynostosis
Head: Brachycephaly, Scalocephaly, Trigonocephaly,
Cloverleaf deformity
Proptosis: exposure keratitis, conjunctivitis
Frontal bossing
Midface hypoplasia
23
 Radiograph: “Beaten silver” appearance, Digital impressions
 Parrot shaped prominence of nose
 Narrow maxillary arch, crowding of maxillary teeth
 Rare: ocular malformations, cleft palate, hearing loss
Diagnosis: Clinical features, Imaging of craniofacial structures,
molecular genetic testing
24
Pediatricians, Neurosurgeons, Plastic surgeons, Otolaryngologists,
Audiologists, Ophthalmologists, Dental specialists, Geneticists
 Surgery: create and ensure that there is enough room within the
skull for the developing brain to grow; to relieve intracranial
pressure (if present)
 Surgical correction of maxillofacial deficiency
 Orthodontic treatment
Management: Multidisciplinary approach
25
Apert Syndrome
(Acrocephalosyndactyly I, syndactylic oxycephaly)
 Eugene Apert:1906
 1 in 65000 live birth.
 Inheritance: AD
 Mutation: FGFR 2 (Pro253Arg, Ser252Trp)
26
Craniosynostosis
Midface hypoplasia
Syndactyly
Frontal flattening
Hypertelorism
Depressed nasal bridge
Exophthalmos
Mitten like syndactyly
Valgus deformity
Pinky
Hallux Varus
Acrocephaly
27
 Constricted palate
 Narrow arch
 Crowding of teeth
 Short stature
 Mental retardation
 Rare: cleft palate, cardiac malformations, delayed eruption of teeth
Diagnosis: Clinical features, Imaging of craniofacial structures,
molecular genetic testing
Prenatal: fetoscopy, ultrasonography
28
Pediatricians, Surgeons, Physician, Orthopedicians, Otorhinolaryngologist,
Cardiologists, Dental specialist, Geneticist, Psychologist
 Early surgery (within 2 to 4 months after birth): correct
craniosynostosis
 Orthognathic surgery
 Orthodontic treatment
Management: Multidisciplinary approach
29
Down Syndrome
(Trisomy 21, Mongolism)
 John Langdon Down : English Physician, 1862
 Not inherited
 Incidence: 1 in 1000 to 1 in 1100 live births.
 Robertsanian translocation: Female (47, XX, +21) Male (47, XY, +21)
 Mosaicism: Some cells have trisomy 21 while some are normal
30
31
 Intellectual disability
 Irregular speech
 Autism
 Epileptic seizure
 Strabismus
 Keratoconus (cone shaped cornea)
 Atrioventicular septal defect
 High risk: testicular cancer,
leukemia
Oral manifestations:
• Gingivitis
• Periodontitis
• Greater resistance to tooth decay
• Macroglossia
• Bruxism
• Hypoplastic maxilla
• Narrow arch
• Malocclusion
• Delayed exfoliation and eruption
of teeth
32
 Diagnosis: Clinical features, Imaging of craniofacial structures,
molecular genetic testing
 Prenatal: Amniocentesis, Chronic Villous Sampling, Ultrasonography
33
 Cardiovascular surgery
 Hearing Aids
 Speech Therapy
 Augmentative and alternative communication methods
 Tonsillectomy
 Oral hygiene maintenance
 Orthognathic surgery
 Orthodontic treatment
Management: Multidisciplinary approach
Pediatricians, Physicians, Surgeons, Otorhinolaryngologist, Speech
therapist, Dental specialist, Psycologist, Geneticist
34
Cleidocranial Dysplasia
(Cleidocranial Dysostosis, Marie-Sainton Syndrome)
 Martin: 1765
 Marie and Sainton: 1898 (Description)
 1 in 1000000 live births.
 Inheritance: AD
 Mutation: Cbfa1
35
36
Frontal, parietal, occipital bossing
Hypoplastic maxilla
High arched palate
Hypoplasia or aplasia of paranasal sinus
Delayed exfoliation of primary tooth
Delayed eruption of permanent tooth
Malocclusion
Diagnosis: Clinical features, Imaging of
craniofacial structures, Molecular
genetics 37
Management: Multidisciplinary approach
Pediatricians, Surgeons, Orthopedicians, Dental specialist,
Otorhinolaryngologist, Psycologist, Geneticist
 Orthognathic surgery
 Removal of deciduous and supernumerary tooth
 Surgical exposure and orthodontic guidance of permanent tooth
 ENT consultation
38
Syndromes of Connective
Tissue Deficiency
39
Ehlers-Danlos Syndrome
(Cutis Hyperelastica, Dermatorrehxis)
 Edvard Ehlers: 1901, recognized the condition as a distinct entity.
 Henri-Alexandre Danlos: 1908, skin extensibility and fragility were
the cardinal features.
 Incidence: 1 in 5000-10000 live births.
40
Villefranche
classification
Berlin
classification
Protein Mutation Inheritance
Classical type I/ II V collagen COL5A1, COL5A2 AD
Hypermobility type III Unknown TNXB AD
Vascular type IV III collagen COL3A1 AD
kyphoscoliosis type VI Lysyl hydroxylase PLOD1 AR
Arthrochalasia type VIIA/ B I collagen COL1A1, COL1A2 AD
Dermatosparaxis
type
VII C N-proteinase ADAMTS2 AR
41
42
 Velvety skin
 Easy bruising
 Poor wound healing
 Joint sublxation/ Dislocation
 Early onset arthritis
 Blue sclera
 Mitral valve prolapse
Oral manifestations
• Vulnerable oral mucosa to injury
• Poor suture retention
• Conical incisor
• Rhizomicry
• Pulpal calcification
• Supple tongue
• High arched palate
• Early onset Periodontitis (VIII)
Diagnosis: clinical examination, skin biopsy, Beighton scale, CT, MRI,
Echocardiography, Molecular genetics
43
Pediatricians, orthopedists, Dermatologist, Rheumatologist,
Cardiologist, Surgeons, Dental specialists, Psychlogist, Geneticist
 Prevention of trauma to joint
 Avoiding unnecessary surgical exposure
 Avoid incidental injury to skin and mucosa
 Infective endocarditis prophylaxis before invasive dental
procedures.
Management: Multidisciplinary approach
44
Marfan syndrome
(Arachnodactyly)
 Antoine Marfan: French Doctor, 1896
 Incidence: 1 in 5000-10000 live births.
 Inheritance: AD
 Mutation: Fibrillin 1 (FBN1)
45
Dolicocephaly
Ectopia lentis (dislocated eye lens)
Myopia
Dolichostenomelia
Arachnodactyly
Pectus excavatum/Carinatum
Mitral valve prolapse/ Aortic
aneurysm
Scoliosis
Pes planus 46
Oral manifestations:
 Malar hypoplasia
 Prognathic mandible
 High arched palate
 Malocclusion
Diagnosis: clinical examination, complete skeletal examination,
echocardiography, molecular genetics
 Ghent Nosology 2010: Aortic aneurysm, eye lens dislocation, family
history of Marfan syndrome
47
Geneticists, Surgeons, Cardiologists, Dental specialists,
Ophthalmologists, Orthopedists
 Orthognathic surgery
 Orthodontic treatment
 Infective endocarditis prophylaxis before invasive procedure
Management: Multidisciplinary approach
48
Ellis-van Creveld Syndrome
(Chondroectodermal Dysplasia, Mesoectodermal Dysplasia)
 Richard W.B. Ellis,Edinburgh and Simon van Creveld, Amsterdam:
late 1930
 Incidence: 1 in 60000-200000 live births.
 Inheritance: AR
 Mutation: EVC2
49
Atrial septal defect
Cryptoorchidism (Males)
Diagnosis: Clinical features, Skeletal examination, Imaging modalities,
Molecular genetics
50
Pediatricians, Surgeons, Cardiologists, Dental specialist,
Pulmonologists, Orthopedists, Urologists
 Surgical correction of soft tissue malformation
 Orthodontic treatment
 Prosthesis for missing teeth
 Infective endocarditis prophylaxis for invasive procedures
Management: Multidisciplinary approach
51
Syndromes of Congenital
Skin Abnormality
52
Hypohidrotic Ectodermal Dysplasia
(Anhidrotic Ectodermal Dysplasia, Christ-Siemens-Touraine Syndrome)
 Weech: 1929, ectodermal dysplasia
 Josef Christ: German dentist and physician, identify the condition
(1930)
 Hermann Werner Siemens: German dermatologist, identified its
pathological characteristics (1930)
 Albert Touraine: French dermatologist, noted and identified additional
characteristics (1930)
53
 Inheritance: XR
 Mutation: EDA
 Incidence: 7 per 10000 live births
54
Hypohydrosis
Hypotrichosis
Hypodontia
Saddle nose
Frontal bossing
Periorbital hyperpigmentation and
wrinkling
Hypoplasia/ aplasia of eccrine glands
Opthalmic/ respiratory infections
Pruritis
Eczema
Unexplained high fever
55
Oral manifestations:
 Majority of primary and permanent teeth absent
 Teeth present are conical and microdontic
 Alveolar ridge fails to form properly
 Everted lips
Diagnosis: Clinical examination (classic triad), Skin biopsy,
pilocarpine iontophoresis, Radiographic adjuncts, molecular genetics
56
Pediatricians, Physicians, Dermatologists, Dental specialists,
Otolaryngologists, Allergists, Psychologist, Geneticist
 Removal of very few remaining teeth followed by complete prosthesis
 Partial denture prosthesis if feasible
 Orthodontic treatment if possible
Management: Multidisciplinary approach
57
Sturge Weber Angiomatosis
(Encephalofacial angiomatosis, Encephalotrigeminal angiomatosis,
Leptomeningeal angiomatosis, Sturge-Kalischer-Weber syndrome, Sturge-
Weber-Krabbe syndrome, Sturge-Weber phakomatosis)
 William Allen Sturge and Frederick Parkes Weber: 19th and early 20th
century
 Incidence: 1 in 20000 to 50000 live birth.
 Inheritance: none, Somatic mutation (Mosaicism)
 Mutation: GNAQ 58
 Type I: Skin + Neorological symptoms
 Type II: Skin symptoms + Glaucoma
 Type III: Neurological symptoms
59
Diagnosis: clinical features, neuroimaging, EEG,
Molecular genetics
60
Pediatricians, Neurologists, Neurosurgeons, Vascular surgeons,
Maxillofacial surgeons, Dermatologists, Ophthalmologists, Psychologists,
geneticists
 Pulse dye laser therapy
 Correction of Malocclusion if any
 Invasive procedures on affected side should be avoided as possible
Management: Multidisciplinary approach
61
Peutz-Jeghers Syndrome
(Polyposis, Hamartomatous Intestinal, Polyps and Spots Syndrome)
 Jan Peutz: 1921, first reported case
 Harold Joseph Jeghers: 1949, Formalized to syndrome
 Andre J. Bruwer: 1954, Introduced a syndrome
 Incidence: 1 in 8000-200000 live births.
 Inheritance: AD
 Mutation: STK11
62
Skin discoloration around eyes, nostrils,
perianal areas.
Diagnosis: Intestinal polyps, Melanin
spots, positive family history (2 of 3)
Molecular genetics 63
Management
 Routine Endoscopy
 Prevention of intestinal obstruction and cancer
 Perioral pigmentation can be removed with laser if
unesthetic
 Genetic counselling
64
Syndromes that become
apparent after infancy
65
Gardner Syndrome
(Intestinal polyposis, Osteomatosis intestinal polyposis
syndrome)
 Gardner: 1951
 Inheritance: 1 per 7500 live births.
 Inheritance: AD
 Mutation: Adenomatous Polyposis Coil (APC) suppressor gene66
67
Oral manifestations:
Multiple odontomes
Multiple impacted supernumerary tooth
Generalized failure of tooth to erupt
Diagnosis: sigmoidoscopy, colonoscopy, Imaging modalities, molecular
genetics 68
Physicians, Surgeons, Gastroenterologist, Maxillofacial surgeons, Dental
specialist, Psychologists, Geneticists
 Removal of osteomas for cosmetic and functional reasons
 Surgical removal of impacted supernumerary tooth
 Surgical removal of multiple odontomes
 Prosthesis for missing teeth
Management: Multidisciplinary approach
69
Nevoid Basal Cell Carcinoma Syndrome
(Gorlin Goltz syndrome, Gorlin syndrome, Basal cell Nevus
syndrome, Jaw cyst-basal cell nevus-bifid rib syndrome,
Hermans-Herzberg phakomatosis)
 Robert Gorlin and Robert Goltz: 1960
 Incidence: 1 per 57000 live births.
 Inheritance: AD
 Mutation: PTCH1 70
71
Sprengel deformity
Oral manisfestations
 Multiple KCOT
 Displaced permanent tooth
 Ectopic eruption of tooth
 Malocclusion
72
Diagnosis
 Major criteria:
 >2 basal cell skin cancer
 Dural calcification
 Jaw bone cyst
 3 or more pits on palms and soles
 Parent or sibling with NBCCS
Minor criteria:
Medulloblastoma
Large forehead
Polydactyly
Bifid ribs
Eye problems (hypertelorism,
cataract)
Fibroma of ovary or heart
Abdominal cyst
2 major+1 minor or 1 major+3 minor 73
Pediatricians, Dermatologists, Oral surgeons, Dental specialist,
Cardiologists, Ophthalmologists, Plastic surgeons, Psychologist, Geneticist
 Surgical enucleation of multiple cysts
 Extraction of hopeless tooth
 Extraction of ectopically erupted tooth
 Orthodontic correction
 Prosthesis for missing teeth when necessary
Management: Multidisciplinary approach
74
Papillon- Lafevre Syndrome
(Keratoris Palmoplantaris with Periodontopathia, Periodontoclasia in
childhood)
 MM Papillon and Paul Lafevre
 Incidence: 1-4 cases per million live births.
 Inheritance: AR
 Mutation: CTSC
75
 Dystrophic nails
 Pyogenic skin infections (furuncles)
 Hyperhydrosis
76
 Severe inflammation and degeneration of the
structures surrounding and supporting the teeth
(periodontium).
 The primary (deciduous) teeth frequently become
loose and fall out by about age 5.
 Most of the permanent teeth may also be lost by
approximately age 17
Diagnosis: clinical examinations,
radiographs, urinanalysis, molecular
genetics
77
Pediatricians, Dermatologist, Oral physiscians, Oral surgeons,
Pedodontist, Periodontist, Prosthodontist, Psychologist,
Geneticist
 Periodontal therapy
 Antibiotic coverage
 Extraction of hopeless teeth
 Prosthesis for missing teeth
Management: Multidisciplinary approach
78
Plummer- Vinson Syndrome
(Sideropenic dysphagia, Paterson’s syndrome, Paterson- Brown-Kelly
syndrome)
 Henry Plummer, Chicago: 1911 and Porter Vinson, Philadelphia: 1919
 Donald Ross Paterson and Adam Brown Kelly published independently
of each other in London in 1919
 Incidence: 1-16 per 100
 Genetic factors, Nutritional deficiencies: possible causes
 Affects middle aged women 79
 Iron deficiency anemia (microcytic, hypochromic)
 Dysphagia
 Facial palor
 Fatigue
 weakness
Schatzki ring
80
Oral manifestations:
 Angular cheilitis
 Atrophic oral mucosa
 Atrophic glossitis
 Burning tongue
Diagnosis: Clinical features, CBC (microcytic hypochromic anemia),
Low serum ferritin level, barium swallow (esophageal webs)
81
Management: Multidisciplinary approach
Physicians, Surgeons, Dental Specialists
 Oral Iron supplement
 Non abrasive diet and use of bland
 Topical anesthetics application
 Prevention of superficial fungal infection
82
Hereditary hemorrhagic Telangiectasia, HHT
(Osler-Weber Rendu syndrome,Rendu-Osler-Weber syndrome)
 Henry Gawen Sutton: 1864 (first described)
 Henri Jules Louis Marie Rendu: 1896 (differentiated Hemophilia)
 William Osler connected the disease’s presence in families
 Frederick Parkes Weber: 1907 (case series)
 1909
83
 Incidence: 1 in 10000 live births.
 Inheritance: AD
 Mutation: ACVRL1, ENG, and SMAD4
84
 HHT1: A-V malformation of brain and lung
 HHT2: A-V malformation of liver
 HHT3
 HHT4
 HHT5: Juvenile polyps in colon
Specific location unknown
85
• A-V malformations in lung,
brain, spinal cord, liver
• Dyspnea, hemoptysis, cyanosis,
polycythemia vera
• Vertigo
• Portal hypertension, biliary
disease
• Hyperdynamic circulation 86
87
Management: Multidisciplinary Approach
Pediatricians, Neurophysicians, Neurosurgeons, Physicians,
Pulmonologist, Cardiologist, Hepato-Biliary specialist,
Gastroenterologist, Dental specialist, Psychologist, Geneticist
 Improvement of systemic condition is emphasized upon
 Preventive measures in oral care: avoiding trauma, soft bland diet
 Infective endocarditis prophylaxis for invasive dental procedures.
88
Syndromes associated with
Fibro-osseous Lesions of
Jaws
89
Jaffe-Lichtenstein syndrome
 Dr. Lichtenstein: 1938 and in 1942 by Drs. Lichtenstein and
Jaffe
 Incidence: 1 in 200000 live births.
 Inheritance: somatic mutation (not inherited)
 Mutation: GNAS1
90
91
McCune Albright syndrome
(Albright syndrome, osteitis fibrosa disseminate)
 Donovan James McCune and Fuller Albright: 1937
 Incidence: 1 in 100000 live births.
 Inheritance: somatic mutation (not inherited)
 Mutation: GNAS1
92
Endocrinopathies:
 Precocious puberty (gonadotrophins)
 Hyperthyroidism (thyroid)
 Macrocephaly/ acromegaly (growth)
 Cushing syndrome (cortisol) 93
Mazabraud syndrome
 Mazabraud: 1967
 Incidence: less than 1 per 1000000 live births
 Inheritance: somatic mutation (not inherited)
 Mutation : GNAS1 (relation between fibrous dysplasia and
myxoma is still unclear)
94
95
Oral manifestations:
 Facial asymmetry
 Uneven jaws
 Misaligned/ displaced
teeth
Other manifestations:
Frontal bossing
Bulging eyes
Hearing loss
Vision impairment
Bone pain
Pathologic fracture
Diagnosis: Clinical features, CT, MRI, Calcium, Phosphorus, Alkaline
phosphatase, Bone biopsy, Endocrinal evaluation, molecular genetics
96
Management: Multidisciplinary Approach
Pediatricians, Orthopedists, Endocrinologists, Dermatologists,
Dental specialists, Psychologist, Geneticist
 Wait and watch: Decreases after puberty
 Bony contouring of the lesion (esthetic/ functional disturbances)
 Orthodontic correction if required
97
Noonan Syndrome
(Female pseudo-Turner syndrome, male Turner syndrome)
 Noonan and Ehmke: 1963
 Incidence: 1 in 1000-2500 live births.
 Inheritance: AD
 Mutation: PTPN11 (50%), SOS1 (10-13%), RAF1(5%), RIT1 (5%),
and KRAS (less than 5%)
98
99
 Congenital heart defects
 Malformations of blood and
lymph vessels
 Blood clotting and platelet
deficiencies
 Attention issues
 Intellectual disability
 Urine (fishy smell,
trimethylaminuria)
Oral manifestations:
Distortion of alveolar
ridges
Tooth displacement
Failure of eruption
Impaired mastication
Speech difficulty
Diagnosis: Clinical features, Radiographic modalities, Echocardiography,
Routine and special blood investigations, urinanalysis, Molecular genetics
Prenatal: Ultrasonography,
100
Pediatricians, Cardiologists, Hematologists, Endocrinologists, Dental
specialists, Psychologist, Geneticist
 Wait and watch: Puberty
 Surgical intervention and curettage after hematological consultation
 Orthodontic correction if needed
 Extraction of hopeless teeth
 Prosthetic replacement for missing teeth
Management: Multidisciplinary Approach
101
Syndromes associated
with Red and white
lesions of oral cavity
102
Grinspan Syndrome
 Grinspan: 1963 observed.
 Grupper & Avul: 1965 confirmed and defined this complex as
"Grinspan's syndrome”
 Incidence: 10%
103
Hypertension
Diabetes mellitus
Lichen planus
Diagnosis
104
It is likely that Grinspans’s syndrome represents a drug induced disorder
105
Management: Multidisciplinary approach
Physicians, Endocrinologist, Dermatologist, Dental Specialist
 Try to identify the causative agent
 Treatment for Oral lichen planus/ Lichenoid reaction to be initiated
 Prednisone 5 mg tablets as mouth rinse 3 times daily,
 Benzydamine hydrochloride 0.15% oral rinse 3 times daily
 Oral multivitamin with antioxidant
106
Syndromes associated
with Facial nerve Palsy
107
Ramsay Hunt syndrome
 James Ramsay Hunt: 1907
 Incidence: 0.3 to 18%
 Cause: Varicella Zoster Virus (VZV)
 In cases of Ramsay Hunt syndrome, previously inactive (dormant)
varicella-zoster virus is reactivated in geniculate ganglion and
spreads to affect the facial nerve.
108
 Ramsay Hunt syndrome type 1: Ramsay Hunt cerebellar syndrome,
cerebellar degeneration which involves myoclonic epilepsy,
progressive ataxia, tremor, and a dementing process.
 Ramsay Hunt syndrome type 2
 Ramsay Hunt syndrome type 3: Occupationally
induced neuropathy of the deep palmar branch of the ulnar nerve. It
is also called Hunt's disease or Artisan's palsy
109
Diagnosis: Clinical features
110
Management
 Acyclovir 800mg five times/ day (5-7days)
 Prednisolone 1mg/Kg body weight tapered over a period of 21 days
 Anesthetic: lignocaine gelly 2%
 Incase of neuralgic pain: Carbamazepine 100mg HS, increase upto
200 mg TDS
 Gabapentin: 300 mg HS and increase upto 300mg TDS
 Eye drops: Tear plus (4-5times/day)
111
Melkersson–Rosenthal syndrome
(Miescher-Melkersson-Rosenthal syndrome)
 Ernst Melkersson and Curt Rosenthal
 Incidence: 8 per 10000 people.
 The cause is unknown but genetic predisposition is under
study
112
Diagnosis: clinical features, Biopsy of lip
113
Management
 Most signs and symptoms resolve without treatment but episodes
may occur more often and last longer if the condition is not treated.
 Treatment may include corticosteroid injections, nonsteroidal anti-
inflammatory agents and antibiotics.
 Surgery and/or radiation are sometimes recommended to reduce
abnormally swollen lips.
114
Syndromes associated
with
Mucopolysaccharodosis
115
Hurler Syndrome
(Mucopolysaccharidosis I, Gargoylism)
 Dr. Gertrude Hurler: 1919
 Incidence: 1 per 100000 live births.
 Inheritance: AR
 Mutation: IUDA, deficiency of the enzyme alpha-L-iduronidase
116
 Progressive mental retardation
 Organomegaly
 Poor growth
 Joint stiffness
 Hydrocephalus
 Aortic Regurgitation
117
Oral manifestations:
 Shortening & broadening of mandible with prominent gonian
 Macroglossia
 Increased distance from ramus to ramus, spacing of teeth
 Delayed tooth eruption
 Gingival hyperplasia
Diagnosis: clinical features, Urinanalysis, Enzyme assay, molecular
genetics
Prenatal: Amniocentesis, Chronic Villous sampling
118
Management
 Poor prognosis
 Patient dies by the age of 10 years due to obstructive airway
disease and cardiac complications
 Laronidase, an enzyme replacement therapy (FDA, 2003) is the
first treatment approved.
119
Hunters Syndrome
(Mucopolysachharodosis II, Iduronate 2-sulfatase deficiency)
 Charles A Hunter: 1917
 Incidence: 1.3 per 100000 live births.
 Inheritance: XR
 Mutation: IDS, eliminates function of Iduronate 2-sulfatase
120
Diagnosis: Clinical features, Enzyme assay, Urianalysis, Molecular
genetics
Prenatal: Amniocentesis, Chronic villous sampling
Initial symptom: 2-4 years
Head/face: Macrocephaly, delayed teeth eruption
progressive hearing loss, thick lips, tongue and nostrils
Heart: Thick heart valves
Lung: obstructive airway disease
Abdomen: Organomegaly
Skeleton: Short neck, broad chest, joint stiffness,
restricted joint movement
121
Management
 Poor prognosis
 Patient dies by the age of 15 years due to obstructive airway
disease and cardiac complications
 Idursulfase, an enzyme replacement therapy (FDA, 2006) is
the first treatment approved.
122
Syndromes primarily
associated with Cleft Lip
and Palate
123
Van der Woude Syndrome
(Lip pits syndrome)
 Anne Van der Woude: 1954
 Incidence: 1 in 100000-200000 live births.
 Inheritance: AD
 Mutations: Interferon regulatory factor 6 (IRF6)
124
Diagnosis: clinical features, radiographs,
molecular genetics
125
Pediatricians, Pedodontist, Plastic surgeons, Cosmetic surgeons,
Maxillofacial surgeons, Speech pathologists, Otolaryngologists,
Orthodontist
 Surgical correction of cleft lip/palate
 Surgical excision of lip pits
 Orthodontic correction of teeth
Management: Multidisciplinary approach
126
Orofacial Digital Syndrome
 Mutation: CXORF5
 Incidence: 1 in 50000 live birth.
127
 OFDS Type I (Papillon-Leage-Psaume Syndrome, XD)
 OFDS Type II (Mohr Syndrome, AR)
 OFDS Type III (Sugarman Syndrome, AR)
 OFDS Type IV (Baraitser-Burn Syndrome, AR)
 OFDS Type V (Thurston Syndrome, AR)
128
 OFDS Type VI (Varadi Syndrome, AR)
 OFDS Type VII (Whelan Syndrome, XD, AD)
 OFDS Type VIII (Edwards Syndrome, XR)
 OFDS Type IX (OFD Syndrome with Retinal Abnormalities, AR)
 OFDS Type X (OFD with Fibular Aplasia, AR)
129
 Intellectual and central nervous system (CNS)
development: Mental retardation, Seizures,
Impeded development of speech and motor
control
 Other: Growth retardation; heart
malfunctioning; kidney malfunctioning; sunken
chest; vulnerability to respiratory infection
130
Diagnosis: Clinical features, Maxillofacial
imaging, Molecular genetics
131
Pediatricians, Pedodontist, Plastic surgeons, Cosmetic surgeons,
Maxillofacial surgeons, Orthopedist, Speech pathologists,
Otolaryngologists, Orthodontist, Pulmonologist, Opthalmologist,
Neurologist, Nephrologist
 Surgical correction of cleft lip/palate
 Orthognathic surgery
 Orthodontic correction of teeth
 Surgical correction of tongue
Management: Multidisciplinary approach
132
Miscellaneous syndromes
133
Ascher’s Syndrome
 Laffer-Ascher: 1920
 Underlying cause is unknown
 Incidence: 10%
 Inheritance: Not inherited
134
 Double lip
 Blepharochalasis
 Non toxic thyroid enlargement
(goiter)
Diagnosis
135
Management: Multidisciplinary Approach
Opthalmologist, Endocrinologist, Dental specialist
 Esthetic/ Cosmetic surgery is the treatment of choice
136
Parry Romberg Syndrome
(Hemifacial atrophy, Progressive facial hemiatrophy, Progressive
hemifacial atrophy, Romberg syndrome)
 Parry: 1825, and Romberg: 1846
 Progressive hemifacial atrophy: Eulenberg in 1871
 Exact cause is unknown and appears to occur sporadically
137
 Wartenburg: cerebral disturbance leads to increased,
unregulated activity of SNS, produce localized atrophy
through its tropic functions conducted by sensory trunks
of trigeminal nerve.
 Incidence: 1 per 700000 live births.
138
• Malformed pinna
• Progressive hearing loss
• Micropthalmia
• Alopecia
• Migraine Headache
• Epileptic seizures
• Hypo/Hyperpigmented
areas in skin
139
Oral manifestations:
 Hemiatrophy lip
 Hemiatrophy tongue
 Hemiatrophy of muscles of mastication
 Hemiatrophy of mandible
 Hemi masticatory spasm
 Unusually small root of teeth
 Malocclusion
 Trigeminal neuralgia
Diagnosis: clinical features, CT, MRI, Biopsy 140
Pediatricians, Surgeons (especially plastic surgeons), Dental
specialist, Ophthalmologists, Dermatologists, Neurologists,
Psychologist
 Cosmetic surgery of maxillofacial region
 Orthodontic correction of malocclusion
 Management of trigeminal Neuralgia (if present)
Management: Multidisciplinary Approach
141
Beckwith-Widemann Syndrome
(Beckwith-Syndrome, Exomphalos-Macroglossia-Gigantism Syndrome,
Hypoglycemia with Macroglossia, Visceromegaly-Umbilical Hernia-
Macroglossia Syndrome, Wiedemann-Beckwith Syndrome)
 Dr. John Bruce Beckwith and Dr. Hans-Rudolf Wiedemann: 1960s,
independently reported cases and proposed new syndrome termed
EMG (exomphalos, macroglossia, and gigantism)
 Over time known as Beckwith–Wiedemann syndrome or Wiedemann
Beckwith syndrome
142
 Inheritance: AD
 Mutation: CDKN1C, H19, IGF2, and KCNQ1OT1
 Incidence: 1 in 13700 live births.
143
 Neonatal Hypoglycemia
 Hemihyperplasia/hemihypertrophy
 Organomegaly
 Nephrocalcinosis
144
Oral manifestations:
 Macroglossia
 Hemihypertrophy/hemihyperplasia of face
 Malocclusion
 Mandibular prognathism
Diagnosis: Clinical features, Blood glucose level, Molecular genetics
Prenatal: Ultrasonography
145
Geneticists, Pediatricians, Plastic surgeons, Nephrologist, Dental
specialists, Speech pathologists, Pediatric oncologists,
Otorhinolaryngologist, Pulmonologist
 Feeding evaluation and sleep studies
 May undergo tongue reduction surgery (upper respiratory
obstruction)
 Orthognathic surgery
 Orthodontic correction of malocclusion
Management: Multidisciplinary Approach
146
Klinefelter Syndrome
(Klinefelter-Reifenstein-Albright syndrome)
 Harry Klinefelter: 1942, worked with Fuller Albright and E. C.
Reifenstein
 Incidence: 1in 500-600 live births.
 Inheritance: not inherited
 Cause: an egg or sperm cell may gain one or more extra copies of
the X chromosome as a result of nondisjunction, 47XXY
147
Diagnosis: Clinical features, Chromosome karyotype analysis on blood
Prenatal: Amniocentesis, Chronic villous sampling 148
Management: Multidisciplinary approach
Physicians, Endocrinologist, General surgeons, Dental
specialist, psychologist, Geneticist
 Tricky extraction and Root Canal treatment of tooth with
Taurodontism
149
Rubinstein–Taybi syndrome
(Broad thumb-hallux syndrome, Rubinstein syndrome)
 Michail, Matsoukas and Theodorou: 1957, case
 Jack Herbert Rubinstein and Hooshang Taybi: 1963, case series
 Incidence: 1 per 125000
 Inheritance: AD
 Mutation: CREBBP, EP300
150
 Developmental delays
 Growth delays
 Speech delays
 Intellectual disability
 Craniofacial dysmorphism
 Recurrent respiratory infections
 Sleep apnea
 Ventricular septal defects
 Dysphagia
 Psychomotor delays
 Beak shaped nose
 Hypertelorism/ptosis
 Kyphosis
 Pectus excavatum
 Cryptorchidism 151
Oral manifestations:
 Small mouth
 Thin upper lip
 High arched palate
 Underdeveloped maxilla/ mandible
 Retrognathia
 Morphological alteration in tooth
 Crowding
 Talon’s cusp
 Bipid uvula
 Grimacing smile Diagnosis: clinical features, radiographs, molecular
genetics,
152
Pediatricians, Cardiologists, Orthopedists, Audiologists, Urologist,
Nephrologists, Dental specialists, Physiotherapist, Speech pathologists,
Psychologist, Geneticist
 Othognathic surgery
 Orthodontic correction of malocclusion
 Removal of occlusal interferences if any
 Improvement in smile line
Management: Multidisciplinary approach
153
Genetic services,
Counselling and Screening
154
Organization of services:
Regional genetic service center
(clinical + laboratory skills)
Family oriented
Individual family records
DNA “banked” from blood samples
Genetic register
Computerized follow up
155
Approach to Genetic Counselling:
Prior to conception
Establishing correct diagnosis:
Challenge
• Number
• Rare
• Heterogeneity (Clinical/Molecular)
 Complications
 Prognosis
 Passing on to future
generations
OPTIONS: stress that reproductive decisions are purely personal than
medical decision and counsellor’s approach remains non-directive
156
OPTIONS
 No further action
 Restrict Family size
 Adoption
 Artificial Insemination
 Ovum donation 157
Genetic screening in population
Meet the following criteria:
 Useful outcome: Early diagnosis will improve treatment or
allows reproductive choice.
 Socially and ethically acceptable
 Accurate with high sensitivity and specificity
 Cost effective
158
Way through…
 Karyotyping
 Gene mapping
 Polymerase chain reaction
 Ultrasonography
159
Genetic clinic in BPKIHS
 Pediatric OPD
 Every Wednesday from 2:00 pm onwards
 Genetic counselling
 History, Examination and Clinical diagnosis
 Multidisciplinary symptomatic management
Genetic cases:
• Down syndrome
• Turner syndrome
Metabolic disorders:
• Congenital hypothyroidism
• Congenital adrenal hyperplasia
Inborn errors of metabolism:
• Fructose intolerance
• Galactosemia
160
Summary
 Syndromes of interest to dentist can be categorized by stage of
development in which they become clinically identifiable.
 Syndromes identifiable soon after birth results from genetic defects
or adverse influences during gestation.
 Syndromes that become apparent later in life is either genetically
determined or acquired by various pathologic mechanisms.
 Many acquired syndromes consists of multiple clinical findings that
are diverse pathophysiologic consequences of an underlying
abnormality.
161
 Syndrome with deficient mandible
 Syndrome with deficient maxilla
 Syndrome with connective tissue deficiency
 Syndrome with congenital skin anomaly
 Syndrome which become apparent after infancy
 Syndromes associated with fibro-osseous lesions of jaws
 Syndrome associated with red and white lesions of oral cavity
 Syndrome associated with facial nerve palsy
 Syndrome associated with mucopolysachharodosis
 Syndromes primarily associated with cleft lip/palate
 Miscellaneous syndromes 162
Conclusion
 Developmental syndromes with oral features present diagnostic
challenge as most of them occur relatively rarely and limits clinicians
ability to gain direct familiarity.
 Diverse manifestations characterize many syndromes which can occur
coincidentally with several abnormality caused by unrelated
conditions.
 Diagnosis requires correlation of pattern of observed abnormalities
with features of recognized syndromes.
 Phasing out the negative societal influence and imparting positive
attitude towards syndromic patient will help them live better and
quality life. 163
Lets Recall…
 Micrognathia, glossoptosis and cleft palate is associated with
 Treacher Collins syndrome
 Mandibulofacial dysostosis
 Pierre Robins syndrome
 Crouzon syndrome
164
 Which is not the feature of Apert Syndrome
 Wormian bones
 Hallux varus
 Acrocephaly
 Valgus deformity
165
 The picture demonstrates________ in Ehlers
Danlos syndrome
 Cigarette paper Scar
 Parchment scarring
 Limber
 Velvety skin
166
 Gene associated with NBCCS is
 CTSC
 PTCH1
 GNAS1
 ACVRL1
167
 Which of the following is mismatch
 Grinspan syndrome: HTN, DM, Lichen planus
 Mazabraud syndrome: GNAS1
 Noonan syndrome: Noonan and Ehmke, 1963
 Hereditary ectodermal dysplasia: Hypohydrosis, hypertrichosis,
hypodontia
168
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 Quintero-Rivera F, Robson CD, Reiss RE, Levine D, et al. Intracranial anomalies detected by imaging studies in
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173
174
Discussion:
Down syndrome and caries:
 Salivary S. mutans (serotype g and c) specific IgA
concentrations were significantly higher in Down syndrome
children leading to lower incidence of dental caries.
Lee SR et al,. Dental caries and salivary immunoglobulin A in Down syndrome children. J Paediatr
Child Health. 2004 Sep-Oct;40(9-10):530-3
175
Low set ears:
 The ear is low-set when the helix of the ear meets the cranium at a level
below that of a horizontal plane through both inner canthi (the inside
corners of the eyes)
Sivan Y, Merlob P, Reisner SH (June 1983). "Assessment of ear length and low set ears in newborn infants". J. Med.
Genet. 20 (3): 213–5
176
Oral surgical considerations (Extraction)
in Ehlers Danlos Syndrome
 Avoided as far as possible.
 Clotting profiles should be checked prior to extraction.
 Desmopressin may be indicated.
 Mucoperiosteal flap should be raised with care.
 Absorbable haemostatic agents to be applied after extraction.
 Better to tie sutures under slight tension, taking larger sections of tissue.
 Care must be taken while using forceps and applying pressure to gums and
surrounding structures.
 Pre-fabricated acrylic plate may be required over extraction site.
Dentistry Medical Resource Guide, 2007. Ehlers Danlos National foundation. 177
Pinky in Apert syndrome
 Pinky: involves syndactyly of Pinky finger (little finger)
Flatt A (1 January 2005). "Webbed fingers". Proceedings (Baylor University. Medical Center). 18 (1): 26–37
178
Infective endocarditis prophylaxis:
 Robin sequence
 Apert syndrome
 Ehlers Danlos syndrome
 Marfan syndrome
 Ellis Van Creveld syndrome
179
Surgical options for airway obstructions
in Robin sequence
 Tracheostomy (Gold Standard)
 Nasopharyngeal airway
 Tongue-lip adhesion
 Distraction osteogenesis of mandible.
Marcellus L. The infant with Pierre Robin sequence: review and implications for nursing
practice. J Pediatr Nurs. 2001;16(1):23–34
180
Height (short stature)
Nepal
 Male: 163 cm (5 feet 4 inch)
 Female: 150 cm (4 feet 11 inch)
Subramanian, S. V.; Özaltin, Emre; Finlay, Jocelyn E. (2011). "Height of Nations: A
Socioeconomic Analysis of Cohort Differences and Patterns among Women in 54
Low- to Middle-Income Countries
181
182
183
184
• Bifurcation is slightly
apical to normal.
• Bifurcation at the
middle of the root.
• Bifurcation at apical
one third or no
bifurcation at all.
In which week of 2nd trimester
morphologic alteration in Usg is seen
18-23 weeks.
Diagnosis of fetal abnormalities-The 18-23 weeks scan. Fetal medicine
Foundation, London
185
Different forms of iron and iron
supplement
 Ferrous fumarate
 Ferrous gluconate
 Ferrous sulfate
 Does: 120 mg iron + 400 µg folic acid daily for 3 months
DeMaeyer EM, Dallman P, Gurney JM, et al (1989) Preventing and controlling iron deficiency anaemia through
primary health care: a guide for health administrators and programme managers. Geneva: World Health
Organization
Gillespie S, Kevany J, Mason J (1991) Controlling iron deficiency. ACC/SCN Stateof-the-Art Series Nutrition
Policy Discussion Paper No. 9. United Nations
186
Genetic clinic around the country
 Bir Hospital
 IOM
187
Chediak Higashi Syndrome
(Begnez-Cesar's Syndrome, Chediak-Steinbrinck-Higashi Syndrome, CHS,
Leukocytic Anomaly Albinism, Natural Killer Lymphocytes, Defect in,
Oculocutaneous Albinism, Chediak-Higashi Type)
 Chediak and Higashi: 1952 and 1954
 Mutation: CHS 1 gene encoding lysosomal trafficking protein.
 Inheritance: AR
 Incidence: less than 500 cases has been reported in last 20 years.
188
 Partial oculocutaneous albinism.
 Easy bruisability and bleeding(result of deficient platelet dense bodies).
 Abnormal natural killer cell function
 Ulcerations of the Oral Mucosa
 Severe Gingivitis and
 Glossitis
 Periodontitis (probably related to defective leukocyte function)
189
Management
 No specific treatment.
 Often fatal.
 Death occurring before child reaches the age of 10 years
190
Difference between lichen planus and
lichenoid reaction
 Neither clinical nor histopathologic features enable
discrimination between different lichenoid reactions:
 Oral lichen planus
 Lichenoid contact reactions
 Lichenoid drug eruptions
 Lichenoid reactions of graft-versus-host disease (GVHD)
191
Antihypertensive and oral hypoglycemic
causing lichenoid reaction
 Antihypertensive:
 ACE inhibitors (Captopril, Lisonopril)
 Oral hypoglycemic:
 Metformin
192
Telangiectasia
 Telangiectasia is a condition in which widened venules (tiny blood
vessels) cause threadlike red lines or patterns on the skin. These
patterns, or telangiectases, form gradually and often in clusters.
 They're sometimes known as “spider veins” because of their fine and
weblike appearance.
193
Diagnosis of Polycythemia vera: WHO
2016
Major criteria:
 Hemoglobin >16.5 g/dL in men and >16 g/dL in women, or hematocrit >49% in
men and >48% in women, or red cell mass >25% above mean normal predicted
value
 Bone marrow biopsy showing hypercellularity for age, including prominent
erythroid, granulocytic, and megakaryocytic proliferation with pleomorphic,
mature megakaryocytes (differences in size)
 Presence of JAK2V617F or JAK2 exon 12 mutation
Minor criteria:
 Serum erythropoetin level below normal. 194
 Criterion 2 (bone marrow biopsy) may not be required in patients
who have sustained absolute erythrocytosis (in men,
hemoglobin/hematocrit of >18.5 g/dL/55.5% or in women, >16.5
g/dL/49.5%) if major criterion 3 and the minor criterion are present.
All 3 major criteria or first 2 major criteria and minor criteria.
195
Investigations for HHT
Ideally no laboratory studies are widely available to confirm the diagnosis of HHT.
 Oximetry is performed with the patient standing and supine for 10 minutes in each
position. An oxygen saturation level of less than 96% in either position is considered
an indication for further testing.
 When a complete blood count (CBC) is done, hemoglobin may be decreased
because of chronic bleeding and iron-deficiency anemia, or the patient may be
polycythemic because of chronic hypoxemia from a right-to-left shunt
 The platelet count may be normal or slightly increased. 196
 The white blood cell (WBC) count should be within the reference range unless
an infectious complication (eg, a brain abscess) is present.
 Coagulation profile findings may exclude a concurrent disorder or
coagulopathy.
 Prothrombin time (PT) and activated partial thromboplastin time (aPTT)
values should be normal, unless severe liver involvement is present.
 Urinalysis should be done to assess for hematuria.
 Stool should be evaluated to look for the presence of blood.
 Liver function tests may be deranged.
197
 Arterial blood gas measurement can also be used as a screening test
for pulmonary AVM. The quantification of a right-to-left shunt can be
measured with the patient breathing 100% oxygen for at least 20
minutes.
Giordano P, Lenato GM, Suppressa P, Lastella P, Dicuonzo F, Chiumarulo L, et al. Hereditary hemorrhagic
telangiectasia: arteriovenous malformations in children. J Pediatr. 2013 Jul. 163(1):179-86.e1-3
Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995 Oct 5.
333(14):918-24
198
Iron supplement: to prevent iron
deficiency anemia; PV syndrome
Iron rich foods:
 Red meat, pork and poultry
 Seafood
 Beans
 Dark green leafy vegetables, such as
spinach
 Dried fruit, such as raisins and apricots
 Iron-fortified cereals, breads and pastas
 Peas
199
Vitamin C to enhance iron
absorption
• Broccoli
• Grapefruit
• Kiwi
• Melons
• Oranges
• Strawberries
• Tomatoes
Baker, S. J., and E. M. DeMaeyer. 1979. Nutritional anemia: its understanding and control with special reference to
the work of the World Health Organization. Am. J. Clin. Nutr. 32:368–417.
Ballot, D. E., A. P. McPhail, T. H. Bothwell, M. Gillooly, and F. G. Mayet. 1989a. Fortification of curry powder with
NaFe(III)EDTA in an iron deficient population: initial survey of iron status. Am. J. Clin. Nutr. 49:156–161
Differential diagnosis of claw hands:
 Hurler’s syndrome
 Hunter’s syndrome
 Leprosy
 Gout, Pseudogout
 Muscular dystrophy
 Charcoat Marry tooth disease
 Lyme disease
 Whipple’s disease
 Reactive arthritis
 Systemic lupus erythematosus
 Sarcododsis
200
Sapienza, A., & Green, S. (2012). Correction of the
claw hand. Hand Clin, 28(1), 53-66. doi:
10.1016/j.hcl.2011.09.009
Differential diagnosis of
multiple impacted teeth
 Cleidocranial dysplasia
 Down syndrome
 Gardner’s syndrome
 Noonan syndrome
 Osteopetrosis
 Mucopolysachharadosis
 Apert syndrome
 Crouzon syndrome
 Ehlers Danlos dyndrome
 Klippel-Trenaunay syndrome
 Orofacial digital syndrome
 Sturge Weber syndrome
201
Bayar G, Ortakoglu K, sensimen M. Multiple impacted tooth: report of
three cases and review of literature. Eur J Dent. 2008 Jan; 2: 73–78
Vanishing Maxilla
Gorham Stout syndrome
 Spontaneous and progressive resorption and disappearance of osseous structures
which is replaced by vascular connective tissue.
 Although the disease is progressive and can be severely disfiguring, it is rarely
fatal. It may progress unremittingly over years but can also spontaneously arrest
 The osteoclast precursors of the patient with osteolysis were found to be more
sensitive to stimulating and humoral factors, such as receptor activator of nuclear
factor kappa B ligand (RANKL) and interleukin-6, and produce greater lacunar
resorption 202
203
Gorham LW, Wright AW, Shultz HH, Maxon FC., Jr Disappearing bones: a rare form of massive
osteolysis; report of two cases, one with autopsy findings. Am J Med 1954;17:674–682
Lee S, Finn L, Sze RW, Perkins JA, Sie KC. Gorham Stout syndrome (disappearing bone disease):
two additional case reports and a review of the literature. Arch Otolaryngol Head Neck
Surg 2003;129:1340–1343
Lobulated tongue in OFDS
 These are called as lingual Hamartomas.
 Mutation in DDX59 gene
Oral-facial digital syndrome. Genetics home reference. ghr.nlm.nih.gov/condition/oral-facial
digital syndrome. Reviewed: February 2010, Published: January 17, 2013
204
Cathepsin C: function
 Cathepsin C (CTSC) also known as dipeptidyl peptidase I (DPP-I) is
a lysosomal exo-cysteine protease belonging to the peptidase C1 family.
 Cathepsin C catalyses excision of dipeptides from the N-terminus of protein and
peptide substrates.
 Cathepsin C functions as a key enzyme in the activation of granule serine
peptidases in inflammatory cells, such as elastase and cathepsin G in neutrophils
cells and chymase and tryptase in mast cells.
Hola-Jamriska L, Tort JF, Dalton JP, Day SR, Fan J, Aaskov J, Brindley PJ (Aug 1998). "Cathepsin C from
Schistosoma japonicum--cDNA encoding the preproenzyme and its phylogenetic relationships". European Journal
of Biochemistry / FEBS. 255 (3): 527–34 205
 Average inner intercanthal distance: 20-35 mm
 Average interpupillary distance: 45-70 mm
 Outer intercanthal distance: 75-105mm
Resident Manual of Trauma to the Face, Head, and Neck, Ed. 1"" (PDF). Retrieved 12 January 2015
206

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Syndromes of orofacial region mine

  • 1. Syndromes of Orofacial Region Resource faculties: Dr. Jyotsna Rimal Additional Prof. and HOD Dr. Iccha Kumar Maharjan Associate Prof. Dr. Sushma Pandey (Dhakal) Associate Prof. Presenter : Abhinaya Luitel JR- II Department of Oral Medicine and Radiology 1
  • 2.  Syndrome and symptom  Common terminologies  Cause of syndrome  Clinical approach to syndrome  Syndrome with deficient mandible  Syndrome with deficient maxilla  Syndrome with connective tissue deficiency  Syndrome with congenital skin anomaly  Syndrome which become apparent after infancy  Syndromes associated with fibro-osseous lesions of jaws C O N T E N T S2
  • 3.  Syndrome associated with red and white lesions of oral cavity  Syndrome associated with facial nerve palsy  Syndrome associated with mucopolysachharodosis  Syndromes primarily associated with cleft lip/palate  Miscellaneous syndromes  Genetic services, counselling and screening  Genetic clinic at BPKIHS  Summary  Conclusion  MCQs  References C O N T E N T S3
  • 4. Syndrome Recognized pattern of clinical abnormalities that have a single cause. (Rosalind Smyth, Textbook of Pediatrics, 2003) Combining its two Greek roots (syn- + dramein), syndrome means "running together“ *Merriam-Webster Medical Dictionary 4
  • 6. Terminologies  MALFORMATION: It is the defect due to localized error of morphogenesis resulting in an abnormal shape or structure with the interference in function. Eg: Cleft lip and palate.  DEFORMATION: Arises not from an error in embryological development but normal fetal growth is restricted. Eg: Low set ears  ANOMALY: It is the deviation from normal same as malformation but without interference in function. Eg. Peg shaped lateral, Enamel hypoplasia. 6
  • 7.  ANOMALAD: Recognized pattern of congenital abnormalities that may have several different causes. Eg: Robin Anomalad (micrognathia, cleft palate, posteriorly displaced tongue) may be a feature of Stickler’s syndrome.  ASSOCIATION: Combination of congenital abnormalities that occur together at a frequency greater than by chance but do not appear to recur in the family. Eg: CREST, SHORT  SEQUENCE: Series of malformation that arise secondary to one specific developmental incident. Eg: Robins Sequence 7
  • 8.  AUTOSOMAL DOMINANT (AD): Inheritance of the abnormal gene from only one parent can cause the disease.  AUTOSOMAL RECESSIVE (AR): Inheritance of two copies of an abnormal gene must be present in order for the disease or trait to develop. 8
  • 9.  X-LINKED DOMINANT (XD): Gene responsible for a genetic disorder is located on the X chromosome, and only one copy of the allele is sufficient to cause the disorder when inherited from a parent.  X-LINKED RECESSIVE (XR): Inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males and in females who are homozygous for the gene mutation 9
  • 10. Cause of syndrome  When one or more chromosomes are missing or mutated, or if extra chromosomes are present, the proteins may not get made, made incorrectly, or too many may be made.  Can cause abnormal development and growth and result in a syndrome.  Sometimes these abnormal genes or chromosomes are passed down from a parent, and sometimes they occur spontaneously without reason Michigan Medicine, 1500 E. Medical Center Drive Ann Arbor, MI 48109 734-936-4000 © copyright 2017 Regents of the University of Michigan 10
  • 11. Clinical approach to diagnosis of syndrome Clinical diagnosis (History + Clinical signs + knowledge of pattern of abnormalities) Rare: Laboratory examinations Relatively common: General population Single palmar crease Partial syndactyly of 2nd and 3rd toe MINOR clinical signs Rare: General population Cleft lip/ palate Polydactyly MAJOR clinical signs Management: Communication skills and communication aids Consent and autonomy Access to care: comfort and positioning Physical interventions: Restrains Multidisciplinary approach Regular follow up: Childhood to Adulthood. 11
  • 13. Treacher Collins syndrome (Mandibulofacial dysostosis, Franceschetti-Zwalen-Klein syndrome, Treacher Collins-Franceschetti syndrome)  Edward Treacher Collins: Opthalmologist, 1900  Incidence: 1 in 25000 to 50000  Inheritance: AD  Mutation: TCOF1 (AD), POLR1C (AD, AR) or POLR1D (AR) 13
  • 14. 14
  • 15.  Paranasal sinus and mastoid air spaces: small or unapparent  One third: palatal cleft  Occasional: Hypoplastic tooth, tooth agenesis, ectopic eruptions, mental retardation, parotid aplasia, skeletal malformations, cardiac anomalies. Diagnosis: Clinical features, Imaging of craniofacial structures, molecular genetic testing Prenatal (if suspected): Amniocentesis, Chronic villus sampling 15
  • 16. Management: Multidisciplinary approach Pediatricians, Otolaryngologists, Oral physicians, Pedodontist, Orthodontist, Prosthodontist, Oral surgeons, Plastic surgeon, Speech therapist, Audiologists, Ophthalmologists, Psychologists, Geneticists.  Esthetics: Reconstructive surgery  Surgical closure of clefts  Orthodontic treatment  Prosthesis 16
  • 17. Robin Sequence (Pierre Robin Syndrome, Robin Anomalad)  Lannelongue and Menard: 1891  1 per 8500 live births.  New De Novo genetic changes but when inherited AD  Mutation: S0X9 17
  • 19.  Labored inspirational breathing  Cyanotic episodes in supine position  Occasional: cardiac defects, ocular abnormalities, mental retardation, ear malformation Diagnosis: Clinical features, Imaging of craniofacial structures, molecular genetic testing Prenatal: Ultrasonography 19
  • 20. Management: Multidisciplinary approach Pediatricians, Otolaryngologists, Oral physicians, Pedodontist, Orthodontist, Oral surgeons, Plastic surgeon, Speech therapist, Psychologists, Geneticists.  Infancy: breathing support and feeding assistance  Surgical cleft closure  Orthodontic treatment  Cardiac defects: Infective endocarditis prophylaxis during invasive dental procedures 20
  • 22. Crouzon Syndrome (Craniofacial Dysostosis, Crouzon Disease, Apert Crouzon Syndrome)  Octave Crouzon: French physician, 1912  Incidence: 1 per 60000 live birth  Inheritance: AD  Mutation: Fibroblast growth factor receptors (FGFR) 2 22
  • 23. Craniosynostosis Head: Brachycephaly, Scalocephaly, Trigonocephaly, Cloverleaf deformity Proptosis: exposure keratitis, conjunctivitis Frontal bossing Midface hypoplasia 23
  • 24.  Radiograph: “Beaten silver” appearance, Digital impressions  Parrot shaped prominence of nose  Narrow maxillary arch, crowding of maxillary teeth  Rare: ocular malformations, cleft palate, hearing loss Diagnosis: Clinical features, Imaging of craniofacial structures, molecular genetic testing 24
  • 25. Pediatricians, Neurosurgeons, Plastic surgeons, Otolaryngologists, Audiologists, Ophthalmologists, Dental specialists, Geneticists  Surgery: create and ensure that there is enough room within the skull for the developing brain to grow; to relieve intracranial pressure (if present)  Surgical correction of maxillofacial deficiency  Orthodontic treatment Management: Multidisciplinary approach 25
  • 26. Apert Syndrome (Acrocephalosyndactyly I, syndactylic oxycephaly)  Eugene Apert:1906  1 in 65000 live birth.  Inheritance: AD  Mutation: FGFR 2 (Pro253Arg, Ser252Trp) 26
  • 27. Craniosynostosis Midface hypoplasia Syndactyly Frontal flattening Hypertelorism Depressed nasal bridge Exophthalmos Mitten like syndactyly Valgus deformity Pinky Hallux Varus Acrocephaly 27
  • 28.  Constricted palate  Narrow arch  Crowding of teeth  Short stature  Mental retardation  Rare: cleft palate, cardiac malformations, delayed eruption of teeth Diagnosis: Clinical features, Imaging of craniofacial structures, molecular genetic testing Prenatal: fetoscopy, ultrasonography 28
  • 29. Pediatricians, Surgeons, Physician, Orthopedicians, Otorhinolaryngologist, Cardiologists, Dental specialist, Geneticist, Psychologist  Early surgery (within 2 to 4 months after birth): correct craniosynostosis  Orthognathic surgery  Orthodontic treatment Management: Multidisciplinary approach 29
  • 30. Down Syndrome (Trisomy 21, Mongolism)  John Langdon Down : English Physician, 1862  Not inherited  Incidence: 1 in 1000 to 1 in 1100 live births.  Robertsanian translocation: Female (47, XX, +21) Male (47, XY, +21)  Mosaicism: Some cells have trisomy 21 while some are normal 30
  • 31. 31
  • 32.  Intellectual disability  Irregular speech  Autism  Epileptic seizure  Strabismus  Keratoconus (cone shaped cornea)  Atrioventicular septal defect  High risk: testicular cancer, leukemia Oral manifestations: • Gingivitis • Periodontitis • Greater resistance to tooth decay • Macroglossia • Bruxism • Hypoplastic maxilla • Narrow arch • Malocclusion • Delayed exfoliation and eruption of teeth 32
  • 33.  Diagnosis: Clinical features, Imaging of craniofacial structures, molecular genetic testing  Prenatal: Amniocentesis, Chronic Villous Sampling, Ultrasonography 33
  • 34.  Cardiovascular surgery  Hearing Aids  Speech Therapy  Augmentative and alternative communication methods  Tonsillectomy  Oral hygiene maintenance  Orthognathic surgery  Orthodontic treatment Management: Multidisciplinary approach Pediatricians, Physicians, Surgeons, Otorhinolaryngologist, Speech therapist, Dental specialist, Psycologist, Geneticist 34
  • 35. Cleidocranial Dysplasia (Cleidocranial Dysostosis, Marie-Sainton Syndrome)  Martin: 1765  Marie and Sainton: 1898 (Description)  1 in 1000000 live births.  Inheritance: AD  Mutation: Cbfa1 35
  • 36. 36
  • 37. Frontal, parietal, occipital bossing Hypoplastic maxilla High arched palate Hypoplasia or aplasia of paranasal sinus Delayed exfoliation of primary tooth Delayed eruption of permanent tooth Malocclusion Diagnosis: Clinical features, Imaging of craniofacial structures, Molecular genetics 37
  • 38. Management: Multidisciplinary approach Pediatricians, Surgeons, Orthopedicians, Dental specialist, Otorhinolaryngologist, Psycologist, Geneticist  Orthognathic surgery  Removal of deciduous and supernumerary tooth  Surgical exposure and orthodontic guidance of permanent tooth  ENT consultation 38
  • 40. Ehlers-Danlos Syndrome (Cutis Hyperelastica, Dermatorrehxis)  Edvard Ehlers: 1901, recognized the condition as a distinct entity.  Henri-Alexandre Danlos: 1908, skin extensibility and fragility were the cardinal features.  Incidence: 1 in 5000-10000 live births. 40
  • 41. Villefranche classification Berlin classification Protein Mutation Inheritance Classical type I/ II V collagen COL5A1, COL5A2 AD Hypermobility type III Unknown TNXB AD Vascular type IV III collagen COL3A1 AD kyphoscoliosis type VI Lysyl hydroxylase PLOD1 AR Arthrochalasia type VIIA/ B I collagen COL1A1, COL1A2 AD Dermatosparaxis type VII C N-proteinase ADAMTS2 AR 41
  • 42. 42
  • 43.  Velvety skin  Easy bruising  Poor wound healing  Joint sublxation/ Dislocation  Early onset arthritis  Blue sclera  Mitral valve prolapse Oral manifestations • Vulnerable oral mucosa to injury • Poor suture retention • Conical incisor • Rhizomicry • Pulpal calcification • Supple tongue • High arched palate • Early onset Periodontitis (VIII) Diagnosis: clinical examination, skin biopsy, Beighton scale, CT, MRI, Echocardiography, Molecular genetics 43
  • 44. Pediatricians, orthopedists, Dermatologist, Rheumatologist, Cardiologist, Surgeons, Dental specialists, Psychlogist, Geneticist  Prevention of trauma to joint  Avoiding unnecessary surgical exposure  Avoid incidental injury to skin and mucosa  Infective endocarditis prophylaxis before invasive dental procedures. Management: Multidisciplinary approach 44
  • 45. Marfan syndrome (Arachnodactyly)  Antoine Marfan: French Doctor, 1896  Incidence: 1 in 5000-10000 live births.  Inheritance: AD  Mutation: Fibrillin 1 (FBN1) 45
  • 46. Dolicocephaly Ectopia lentis (dislocated eye lens) Myopia Dolichostenomelia Arachnodactyly Pectus excavatum/Carinatum Mitral valve prolapse/ Aortic aneurysm Scoliosis Pes planus 46
  • 47. Oral manifestations:  Malar hypoplasia  Prognathic mandible  High arched palate  Malocclusion Diagnosis: clinical examination, complete skeletal examination, echocardiography, molecular genetics  Ghent Nosology 2010: Aortic aneurysm, eye lens dislocation, family history of Marfan syndrome 47
  • 48. Geneticists, Surgeons, Cardiologists, Dental specialists, Ophthalmologists, Orthopedists  Orthognathic surgery  Orthodontic treatment  Infective endocarditis prophylaxis before invasive procedure Management: Multidisciplinary approach 48
  • 49. Ellis-van Creveld Syndrome (Chondroectodermal Dysplasia, Mesoectodermal Dysplasia)  Richard W.B. Ellis,Edinburgh and Simon van Creveld, Amsterdam: late 1930  Incidence: 1 in 60000-200000 live births.  Inheritance: AR  Mutation: EVC2 49
  • 50. Atrial septal defect Cryptoorchidism (Males) Diagnosis: Clinical features, Skeletal examination, Imaging modalities, Molecular genetics 50
  • 51. Pediatricians, Surgeons, Cardiologists, Dental specialist, Pulmonologists, Orthopedists, Urologists  Surgical correction of soft tissue malformation  Orthodontic treatment  Prosthesis for missing teeth  Infective endocarditis prophylaxis for invasive procedures Management: Multidisciplinary approach 51
  • 53. Hypohidrotic Ectodermal Dysplasia (Anhidrotic Ectodermal Dysplasia, Christ-Siemens-Touraine Syndrome)  Weech: 1929, ectodermal dysplasia  Josef Christ: German dentist and physician, identify the condition (1930)  Hermann Werner Siemens: German dermatologist, identified its pathological characteristics (1930)  Albert Touraine: French dermatologist, noted and identified additional characteristics (1930) 53
  • 54.  Inheritance: XR  Mutation: EDA  Incidence: 7 per 10000 live births 54
  • 55. Hypohydrosis Hypotrichosis Hypodontia Saddle nose Frontal bossing Periorbital hyperpigmentation and wrinkling Hypoplasia/ aplasia of eccrine glands Opthalmic/ respiratory infections Pruritis Eczema Unexplained high fever 55
  • 56. Oral manifestations:  Majority of primary and permanent teeth absent  Teeth present are conical and microdontic  Alveolar ridge fails to form properly  Everted lips Diagnosis: Clinical examination (classic triad), Skin biopsy, pilocarpine iontophoresis, Radiographic adjuncts, molecular genetics 56
  • 57. Pediatricians, Physicians, Dermatologists, Dental specialists, Otolaryngologists, Allergists, Psychologist, Geneticist  Removal of very few remaining teeth followed by complete prosthesis  Partial denture prosthesis if feasible  Orthodontic treatment if possible Management: Multidisciplinary approach 57
  • 58. Sturge Weber Angiomatosis (Encephalofacial angiomatosis, Encephalotrigeminal angiomatosis, Leptomeningeal angiomatosis, Sturge-Kalischer-Weber syndrome, Sturge- Weber-Krabbe syndrome, Sturge-Weber phakomatosis)  William Allen Sturge and Frederick Parkes Weber: 19th and early 20th century  Incidence: 1 in 20000 to 50000 live birth.  Inheritance: none, Somatic mutation (Mosaicism)  Mutation: GNAQ 58
  • 59.  Type I: Skin + Neorological symptoms  Type II: Skin symptoms + Glaucoma  Type III: Neurological symptoms 59
  • 60. Diagnosis: clinical features, neuroimaging, EEG, Molecular genetics 60
  • 61. Pediatricians, Neurologists, Neurosurgeons, Vascular surgeons, Maxillofacial surgeons, Dermatologists, Ophthalmologists, Psychologists, geneticists  Pulse dye laser therapy  Correction of Malocclusion if any  Invasive procedures on affected side should be avoided as possible Management: Multidisciplinary approach 61
  • 62. Peutz-Jeghers Syndrome (Polyposis, Hamartomatous Intestinal, Polyps and Spots Syndrome)  Jan Peutz: 1921, first reported case  Harold Joseph Jeghers: 1949, Formalized to syndrome  Andre J. Bruwer: 1954, Introduced a syndrome  Incidence: 1 in 8000-200000 live births.  Inheritance: AD  Mutation: STK11 62
  • 63. Skin discoloration around eyes, nostrils, perianal areas. Diagnosis: Intestinal polyps, Melanin spots, positive family history (2 of 3) Molecular genetics 63
  • 64. Management  Routine Endoscopy  Prevention of intestinal obstruction and cancer  Perioral pigmentation can be removed with laser if unesthetic  Genetic counselling 64
  • 65. Syndromes that become apparent after infancy 65
  • 66. Gardner Syndrome (Intestinal polyposis, Osteomatosis intestinal polyposis syndrome)  Gardner: 1951  Inheritance: 1 per 7500 live births.  Inheritance: AD  Mutation: Adenomatous Polyposis Coil (APC) suppressor gene66
  • 67. 67
  • 68. Oral manifestations: Multiple odontomes Multiple impacted supernumerary tooth Generalized failure of tooth to erupt Diagnosis: sigmoidoscopy, colonoscopy, Imaging modalities, molecular genetics 68
  • 69. Physicians, Surgeons, Gastroenterologist, Maxillofacial surgeons, Dental specialist, Psychologists, Geneticists  Removal of osteomas for cosmetic and functional reasons  Surgical removal of impacted supernumerary tooth  Surgical removal of multiple odontomes  Prosthesis for missing teeth Management: Multidisciplinary approach 69
  • 70. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Goltz syndrome, Gorlin syndrome, Basal cell Nevus syndrome, Jaw cyst-basal cell nevus-bifid rib syndrome, Hermans-Herzberg phakomatosis)  Robert Gorlin and Robert Goltz: 1960  Incidence: 1 per 57000 live births.  Inheritance: AD  Mutation: PTCH1 70
  • 72. Oral manisfestations  Multiple KCOT  Displaced permanent tooth  Ectopic eruption of tooth  Malocclusion 72
  • 73. Diagnosis  Major criteria:  >2 basal cell skin cancer  Dural calcification  Jaw bone cyst  3 or more pits on palms and soles  Parent or sibling with NBCCS Minor criteria: Medulloblastoma Large forehead Polydactyly Bifid ribs Eye problems (hypertelorism, cataract) Fibroma of ovary or heart Abdominal cyst 2 major+1 minor or 1 major+3 minor 73
  • 74. Pediatricians, Dermatologists, Oral surgeons, Dental specialist, Cardiologists, Ophthalmologists, Plastic surgeons, Psychologist, Geneticist  Surgical enucleation of multiple cysts  Extraction of hopeless tooth  Extraction of ectopically erupted tooth  Orthodontic correction  Prosthesis for missing teeth when necessary Management: Multidisciplinary approach 74
  • 75. Papillon- Lafevre Syndrome (Keratoris Palmoplantaris with Periodontopathia, Periodontoclasia in childhood)  MM Papillon and Paul Lafevre  Incidence: 1-4 cases per million live births.  Inheritance: AR  Mutation: CTSC 75
  • 76.  Dystrophic nails  Pyogenic skin infections (furuncles)  Hyperhydrosis 76
  • 77.  Severe inflammation and degeneration of the structures surrounding and supporting the teeth (periodontium).  The primary (deciduous) teeth frequently become loose and fall out by about age 5.  Most of the permanent teeth may also be lost by approximately age 17 Diagnosis: clinical examinations, radiographs, urinanalysis, molecular genetics 77
  • 78. Pediatricians, Dermatologist, Oral physiscians, Oral surgeons, Pedodontist, Periodontist, Prosthodontist, Psychologist, Geneticist  Periodontal therapy  Antibiotic coverage  Extraction of hopeless teeth  Prosthesis for missing teeth Management: Multidisciplinary approach 78
  • 79. Plummer- Vinson Syndrome (Sideropenic dysphagia, Paterson’s syndrome, Paterson- Brown-Kelly syndrome)  Henry Plummer, Chicago: 1911 and Porter Vinson, Philadelphia: 1919  Donald Ross Paterson and Adam Brown Kelly published independently of each other in London in 1919  Incidence: 1-16 per 100  Genetic factors, Nutritional deficiencies: possible causes  Affects middle aged women 79
  • 80.  Iron deficiency anemia (microcytic, hypochromic)  Dysphagia  Facial palor  Fatigue  weakness Schatzki ring 80
  • 81. Oral manifestations:  Angular cheilitis  Atrophic oral mucosa  Atrophic glossitis  Burning tongue Diagnosis: Clinical features, CBC (microcytic hypochromic anemia), Low serum ferritin level, barium swallow (esophageal webs) 81
  • 82. Management: Multidisciplinary approach Physicians, Surgeons, Dental Specialists  Oral Iron supplement  Non abrasive diet and use of bland  Topical anesthetics application  Prevention of superficial fungal infection 82
  • 83. Hereditary hemorrhagic Telangiectasia, HHT (Osler-Weber Rendu syndrome,Rendu-Osler-Weber syndrome)  Henry Gawen Sutton: 1864 (first described)  Henri Jules Louis Marie Rendu: 1896 (differentiated Hemophilia)  William Osler connected the disease’s presence in families  Frederick Parkes Weber: 1907 (case series)  1909 83
  • 84.  Incidence: 1 in 10000 live births.  Inheritance: AD  Mutation: ACVRL1, ENG, and SMAD4 84
  • 85.  HHT1: A-V malformation of brain and lung  HHT2: A-V malformation of liver  HHT3  HHT4  HHT5: Juvenile polyps in colon Specific location unknown 85
  • 86. • A-V malformations in lung, brain, spinal cord, liver • Dyspnea, hemoptysis, cyanosis, polycythemia vera • Vertigo • Portal hypertension, biliary disease • Hyperdynamic circulation 86
  • 87. 87
  • 88. Management: Multidisciplinary Approach Pediatricians, Neurophysicians, Neurosurgeons, Physicians, Pulmonologist, Cardiologist, Hepato-Biliary specialist, Gastroenterologist, Dental specialist, Psychologist, Geneticist  Improvement of systemic condition is emphasized upon  Preventive measures in oral care: avoiding trauma, soft bland diet  Infective endocarditis prophylaxis for invasive dental procedures. 88
  • 90. Jaffe-Lichtenstein syndrome  Dr. Lichtenstein: 1938 and in 1942 by Drs. Lichtenstein and Jaffe  Incidence: 1 in 200000 live births.  Inheritance: somatic mutation (not inherited)  Mutation: GNAS1 90
  • 91. 91
  • 92. McCune Albright syndrome (Albright syndrome, osteitis fibrosa disseminate)  Donovan James McCune and Fuller Albright: 1937  Incidence: 1 in 100000 live births.  Inheritance: somatic mutation (not inherited)  Mutation: GNAS1 92
  • 93. Endocrinopathies:  Precocious puberty (gonadotrophins)  Hyperthyroidism (thyroid)  Macrocephaly/ acromegaly (growth)  Cushing syndrome (cortisol) 93
  • 94. Mazabraud syndrome  Mazabraud: 1967  Incidence: less than 1 per 1000000 live births  Inheritance: somatic mutation (not inherited)  Mutation : GNAS1 (relation between fibrous dysplasia and myxoma is still unclear) 94
  • 95. 95
  • 96. Oral manifestations:  Facial asymmetry  Uneven jaws  Misaligned/ displaced teeth Other manifestations: Frontal bossing Bulging eyes Hearing loss Vision impairment Bone pain Pathologic fracture Diagnosis: Clinical features, CT, MRI, Calcium, Phosphorus, Alkaline phosphatase, Bone biopsy, Endocrinal evaluation, molecular genetics 96
  • 97. Management: Multidisciplinary Approach Pediatricians, Orthopedists, Endocrinologists, Dermatologists, Dental specialists, Psychologist, Geneticist  Wait and watch: Decreases after puberty  Bony contouring of the lesion (esthetic/ functional disturbances)  Orthodontic correction if required 97
  • 98. Noonan Syndrome (Female pseudo-Turner syndrome, male Turner syndrome)  Noonan and Ehmke: 1963  Incidence: 1 in 1000-2500 live births.  Inheritance: AD  Mutation: PTPN11 (50%), SOS1 (10-13%), RAF1(5%), RIT1 (5%), and KRAS (less than 5%) 98
  • 99. 99
  • 100.  Congenital heart defects  Malformations of blood and lymph vessels  Blood clotting and platelet deficiencies  Attention issues  Intellectual disability  Urine (fishy smell, trimethylaminuria) Oral manifestations: Distortion of alveolar ridges Tooth displacement Failure of eruption Impaired mastication Speech difficulty Diagnosis: Clinical features, Radiographic modalities, Echocardiography, Routine and special blood investigations, urinanalysis, Molecular genetics Prenatal: Ultrasonography, 100
  • 101. Pediatricians, Cardiologists, Hematologists, Endocrinologists, Dental specialists, Psychologist, Geneticist  Wait and watch: Puberty  Surgical intervention and curettage after hematological consultation  Orthodontic correction if needed  Extraction of hopeless teeth  Prosthetic replacement for missing teeth Management: Multidisciplinary Approach 101
  • 102. Syndromes associated with Red and white lesions of oral cavity 102
  • 103. Grinspan Syndrome  Grinspan: 1963 observed.  Grupper & Avul: 1965 confirmed and defined this complex as "Grinspan's syndrome”  Incidence: 10% 103
  • 105. It is likely that Grinspans’s syndrome represents a drug induced disorder 105
  • 106. Management: Multidisciplinary approach Physicians, Endocrinologist, Dermatologist, Dental Specialist  Try to identify the causative agent  Treatment for Oral lichen planus/ Lichenoid reaction to be initiated  Prednisone 5 mg tablets as mouth rinse 3 times daily,  Benzydamine hydrochloride 0.15% oral rinse 3 times daily  Oral multivitamin with antioxidant 106
  • 108. Ramsay Hunt syndrome  James Ramsay Hunt: 1907  Incidence: 0.3 to 18%  Cause: Varicella Zoster Virus (VZV)  In cases of Ramsay Hunt syndrome, previously inactive (dormant) varicella-zoster virus is reactivated in geniculate ganglion and spreads to affect the facial nerve. 108
  • 109.  Ramsay Hunt syndrome type 1: Ramsay Hunt cerebellar syndrome, cerebellar degeneration which involves myoclonic epilepsy, progressive ataxia, tremor, and a dementing process.  Ramsay Hunt syndrome type 2  Ramsay Hunt syndrome type 3: Occupationally induced neuropathy of the deep palmar branch of the ulnar nerve. It is also called Hunt's disease or Artisan's palsy 109
  • 111. Management  Acyclovir 800mg five times/ day (5-7days)  Prednisolone 1mg/Kg body weight tapered over a period of 21 days  Anesthetic: lignocaine gelly 2%  Incase of neuralgic pain: Carbamazepine 100mg HS, increase upto 200 mg TDS  Gabapentin: 300 mg HS and increase upto 300mg TDS  Eye drops: Tear plus (4-5times/day) 111
  • 112. Melkersson–Rosenthal syndrome (Miescher-Melkersson-Rosenthal syndrome)  Ernst Melkersson and Curt Rosenthal  Incidence: 8 per 10000 people.  The cause is unknown but genetic predisposition is under study 112
  • 113. Diagnosis: clinical features, Biopsy of lip 113
  • 114. Management  Most signs and symptoms resolve without treatment but episodes may occur more often and last longer if the condition is not treated.  Treatment may include corticosteroid injections, nonsteroidal anti- inflammatory agents and antibiotics.  Surgery and/or radiation are sometimes recommended to reduce abnormally swollen lips. 114
  • 116. Hurler Syndrome (Mucopolysaccharidosis I, Gargoylism)  Dr. Gertrude Hurler: 1919  Incidence: 1 per 100000 live births.  Inheritance: AR  Mutation: IUDA, deficiency of the enzyme alpha-L-iduronidase 116
  • 117.  Progressive mental retardation  Organomegaly  Poor growth  Joint stiffness  Hydrocephalus  Aortic Regurgitation 117
  • 118. Oral manifestations:  Shortening & broadening of mandible with prominent gonian  Macroglossia  Increased distance from ramus to ramus, spacing of teeth  Delayed tooth eruption  Gingival hyperplasia Diagnosis: clinical features, Urinanalysis, Enzyme assay, molecular genetics Prenatal: Amniocentesis, Chronic Villous sampling 118
  • 119. Management  Poor prognosis  Patient dies by the age of 10 years due to obstructive airway disease and cardiac complications  Laronidase, an enzyme replacement therapy (FDA, 2003) is the first treatment approved. 119
  • 120. Hunters Syndrome (Mucopolysachharodosis II, Iduronate 2-sulfatase deficiency)  Charles A Hunter: 1917  Incidence: 1.3 per 100000 live births.  Inheritance: XR  Mutation: IDS, eliminates function of Iduronate 2-sulfatase 120
  • 121. Diagnosis: Clinical features, Enzyme assay, Urianalysis, Molecular genetics Prenatal: Amniocentesis, Chronic villous sampling Initial symptom: 2-4 years Head/face: Macrocephaly, delayed teeth eruption progressive hearing loss, thick lips, tongue and nostrils Heart: Thick heart valves Lung: obstructive airway disease Abdomen: Organomegaly Skeleton: Short neck, broad chest, joint stiffness, restricted joint movement 121
  • 122. Management  Poor prognosis  Patient dies by the age of 15 years due to obstructive airway disease and cardiac complications  Idursulfase, an enzyme replacement therapy (FDA, 2006) is the first treatment approved. 122
  • 123. Syndromes primarily associated with Cleft Lip and Palate 123
  • 124. Van der Woude Syndrome (Lip pits syndrome)  Anne Van der Woude: 1954  Incidence: 1 in 100000-200000 live births.  Inheritance: AD  Mutations: Interferon regulatory factor 6 (IRF6) 124
  • 125. Diagnosis: clinical features, radiographs, molecular genetics 125
  • 126. Pediatricians, Pedodontist, Plastic surgeons, Cosmetic surgeons, Maxillofacial surgeons, Speech pathologists, Otolaryngologists, Orthodontist  Surgical correction of cleft lip/palate  Surgical excision of lip pits  Orthodontic correction of teeth Management: Multidisciplinary approach 126
  • 127. Orofacial Digital Syndrome  Mutation: CXORF5  Incidence: 1 in 50000 live birth. 127
  • 128.  OFDS Type I (Papillon-Leage-Psaume Syndrome, XD)  OFDS Type II (Mohr Syndrome, AR)  OFDS Type III (Sugarman Syndrome, AR)  OFDS Type IV (Baraitser-Burn Syndrome, AR)  OFDS Type V (Thurston Syndrome, AR) 128
  • 129.  OFDS Type VI (Varadi Syndrome, AR)  OFDS Type VII (Whelan Syndrome, XD, AD)  OFDS Type VIII (Edwards Syndrome, XR)  OFDS Type IX (OFD Syndrome with Retinal Abnormalities, AR)  OFDS Type X (OFD with Fibular Aplasia, AR) 129
  • 130.  Intellectual and central nervous system (CNS) development: Mental retardation, Seizures, Impeded development of speech and motor control  Other: Growth retardation; heart malfunctioning; kidney malfunctioning; sunken chest; vulnerability to respiratory infection 130
  • 131. Diagnosis: Clinical features, Maxillofacial imaging, Molecular genetics 131
  • 132. Pediatricians, Pedodontist, Plastic surgeons, Cosmetic surgeons, Maxillofacial surgeons, Orthopedist, Speech pathologists, Otolaryngologists, Orthodontist, Pulmonologist, Opthalmologist, Neurologist, Nephrologist  Surgical correction of cleft lip/palate  Orthognathic surgery  Orthodontic correction of teeth  Surgical correction of tongue Management: Multidisciplinary approach 132
  • 134. Ascher’s Syndrome  Laffer-Ascher: 1920  Underlying cause is unknown  Incidence: 10%  Inheritance: Not inherited 134
  • 135.  Double lip  Blepharochalasis  Non toxic thyroid enlargement (goiter) Diagnosis 135
  • 136. Management: Multidisciplinary Approach Opthalmologist, Endocrinologist, Dental specialist  Esthetic/ Cosmetic surgery is the treatment of choice 136
  • 137. Parry Romberg Syndrome (Hemifacial atrophy, Progressive facial hemiatrophy, Progressive hemifacial atrophy, Romberg syndrome)  Parry: 1825, and Romberg: 1846  Progressive hemifacial atrophy: Eulenberg in 1871  Exact cause is unknown and appears to occur sporadically 137
  • 138.  Wartenburg: cerebral disturbance leads to increased, unregulated activity of SNS, produce localized atrophy through its tropic functions conducted by sensory trunks of trigeminal nerve.  Incidence: 1 per 700000 live births. 138
  • 139. • Malformed pinna • Progressive hearing loss • Micropthalmia • Alopecia • Migraine Headache • Epileptic seizures • Hypo/Hyperpigmented areas in skin 139
  • 140. Oral manifestations:  Hemiatrophy lip  Hemiatrophy tongue  Hemiatrophy of muscles of mastication  Hemiatrophy of mandible  Hemi masticatory spasm  Unusually small root of teeth  Malocclusion  Trigeminal neuralgia Diagnosis: clinical features, CT, MRI, Biopsy 140
  • 141. Pediatricians, Surgeons (especially plastic surgeons), Dental specialist, Ophthalmologists, Dermatologists, Neurologists, Psychologist  Cosmetic surgery of maxillofacial region  Orthodontic correction of malocclusion  Management of trigeminal Neuralgia (if present) Management: Multidisciplinary Approach 141
  • 142. Beckwith-Widemann Syndrome (Beckwith-Syndrome, Exomphalos-Macroglossia-Gigantism Syndrome, Hypoglycemia with Macroglossia, Visceromegaly-Umbilical Hernia- Macroglossia Syndrome, Wiedemann-Beckwith Syndrome)  Dr. John Bruce Beckwith and Dr. Hans-Rudolf Wiedemann: 1960s, independently reported cases and proposed new syndrome termed EMG (exomphalos, macroglossia, and gigantism)  Over time known as Beckwith–Wiedemann syndrome or Wiedemann Beckwith syndrome 142
  • 143.  Inheritance: AD  Mutation: CDKN1C, H19, IGF2, and KCNQ1OT1  Incidence: 1 in 13700 live births. 143
  • 144.  Neonatal Hypoglycemia  Hemihyperplasia/hemihypertrophy  Organomegaly  Nephrocalcinosis 144
  • 145. Oral manifestations:  Macroglossia  Hemihypertrophy/hemihyperplasia of face  Malocclusion  Mandibular prognathism Diagnosis: Clinical features, Blood glucose level, Molecular genetics Prenatal: Ultrasonography 145
  • 146. Geneticists, Pediatricians, Plastic surgeons, Nephrologist, Dental specialists, Speech pathologists, Pediatric oncologists, Otorhinolaryngologist, Pulmonologist  Feeding evaluation and sleep studies  May undergo tongue reduction surgery (upper respiratory obstruction)  Orthognathic surgery  Orthodontic correction of malocclusion Management: Multidisciplinary Approach 146
  • 147. Klinefelter Syndrome (Klinefelter-Reifenstein-Albright syndrome)  Harry Klinefelter: 1942, worked with Fuller Albright and E. C. Reifenstein  Incidence: 1in 500-600 live births.  Inheritance: not inherited  Cause: an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction, 47XXY 147
  • 148. Diagnosis: Clinical features, Chromosome karyotype analysis on blood Prenatal: Amniocentesis, Chronic villous sampling 148
  • 149. Management: Multidisciplinary approach Physicians, Endocrinologist, General surgeons, Dental specialist, psychologist, Geneticist  Tricky extraction and Root Canal treatment of tooth with Taurodontism 149
  • 150. Rubinstein–Taybi syndrome (Broad thumb-hallux syndrome, Rubinstein syndrome)  Michail, Matsoukas and Theodorou: 1957, case  Jack Herbert Rubinstein and Hooshang Taybi: 1963, case series  Incidence: 1 per 125000  Inheritance: AD  Mutation: CREBBP, EP300 150
  • 151.  Developmental delays  Growth delays  Speech delays  Intellectual disability  Craniofacial dysmorphism  Recurrent respiratory infections  Sleep apnea  Ventricular septal defects  Dysphagia  Psychomotor delays  Beak shaped nose  Hypertelorism/ptosis  Kyphosis  Pectus excavatum  Cryptorchidism 151
  • 152. Oral manifestations:  Small mouth  Thin upper lip  High arched palate  Underdeveloped maxilla/ mandible  Retrognathia  Morphological alteration in tooth  Crowding  Talon’s cusp  Bipid uvula  Grimacing smile Diagnosis: clinical features, radiographs, molecular genetics, 152
  • 153. Pediatricians, Cardiologists, Orthopedists, Audiologists, Urologist, Nephrologists, Dental specialists, Physiotherapist, Speech pathologists, Psychologist, Geneticist  Othognathic surgery  Orthodontic correction of malocclusion  Removal of occlusal interferences if any  Improvement in smile line Management: Multidisciplinary approach 153
  • 155. Organization of services: Regional genetic service center (clinical + laboratory skills) Family oriented Individual family records DNA “banked” from blood samples Genetic register Computerized follow up 155
  • 156. Approach to Genetic Counselling: Prior to conception Establishing correct diagnosis: Challenge • Number • Rare • Heterogeneity (Clinical/Molecular)  Complications  Prognosis  Passing on to future generations OPTIONS: stress that reproductive decisions are purely personal than medical decision and counsellor’s approach remains non-directive 156
  • 157. OPTIONS  No further action  Restrict Family size  Adoption  Artificial Insemination  Ovum donation 157
  • 158. Genetic screening in population Meet the following criteria:  Useful outcome: Early diagnosis will improve treatment or allows reproductive choice.  Socially and ethically acceptable  Accurate with high sensitivity and specificity  Cost effective 158
  • 159. Way through…  Karyotyping  Gene mapping  Polymerase chain reaction  Ultrasonography 159
  • 160. Genetic clinic in BPKIHS  Pediatric OPD  Every Wednesday from 2:00 pm onwards  Genetic counselling  History, Examination and Clinical diagnosis  Multidisciplinary symptomatic management Genetic cases: • Down syndrome • Turner syndrome Metabolic disorders: • Congenital hypothyroidism • Congenital adrenal hyperplasia Inborn errors of metabolism: • Fructose intolerance • Galactosemia 160
  • 161. Summary  Syndromes of interest to dentist can be categorized by stage of development in which they become clinically identifiable.  Syndromes identifiable soon after birth results from genetic defects or adverse influences during gestation.  Syndromes that become apparent later in life is either genetically determined or acquired by various pathologic mechanisms.  Many acquired syndromes consists of multiple clinical findings that are diverse pathophysiologic consequences of an underlying abnormality. 161
  • 162.  Syndrome with deficient mandible  Syndrome with deficient maxilla  Syndrome with connective tissue deficiency  Syndrome with congenital skin anomaly  Syndrome which become apparent after infancy  Syndromes associated with fibro-osseous lesions of jaws  Syndrome associated with red and white lesions of oral cavity  Syndrome associated with facial nerve palsy  Syndrome associated with mucopolysachharodosis  Syndromes primarily associated with cleft lip/palate  Miscellaneous syndromes 162
  • 163. Conclusion  Developmental syndromes with oral features present diagnostic challenge as most of them occur relatively rarely and limits clinicians ability to gain direct familiarity.  Diverse manifestations characterize many syndromes which can occur coincidentally with several abnormality caused by unrelated conditions.  Diagnosis requires correlation of pattern of observed abnormalities with features of recognized syndromes.  Phasing out the negative societal influence and imparting positive attitude towards syndromic patient will help them live better and quality life. 163
  • 164. Lets Recall…  Micrognathia, glossoptosis and cleft palate is associated with  Treacher Collins syndrome  Mandibulofacial dysostosis  Pierre Robins syndrome  Crouzon syndrome 164
  • 165.  Which is not the feature of Apert Syndrome  Wormian bones  Hallux varus  Acrocephaly  Valgus deformity 165
  • 166.  The picture demonstrates________ in Ehlers Danlos syndrome  Cigarette paper Scar  Parchment scarring  Limber  Velvety skin 166
  • 167.  Gene associated with NBCCS is  CTSC  PTCH1  GNAS1  ACVRL1 167
  • 168.  Which of the following is mismatch  Grinspan syndrome: HTN, DM, Lichen planus  Mazabraud syndrome: GNAS1  Noonan syndrome: Noonan and Ehmke, 1963  Hereditary ectodermal dysplasia: Hypohydrosis, hypertrichosis, hypodontia 168
  • 169. References:  MCIntosh N, Helms P, Smyth R. Textbook of Pediatrics. 6th Edition. Edinburgh: Churchill Livingstone, 2003  Glick M. Burket’s Oral Medicine. 12th edition. Connecticut: PMPH, 2015  Wulfsburgh EA. Treacher Collins Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:262-3  Sakai D, Dixon J, Achilleos A, Dixon M, Trainor PA. Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation. Nat Commun. 2016; 21;7:10328  Yao CT, Wang JN, Tai YT, Tsai TY, Wu JM. Successful management of a neonate with Pierre-Robin syndrome and severe upper airway obstruction by long-term placement of a laryngeal mask airway. Resuscitation. 2004 Apr;61(1):97-9  Abu-Sittah GS, Jeelani O, Dunaway D, Hayward R. Raised intracranial pressure in Crouzon syndrome: incidence, causes, and management. J Neurosurg Pediatr. 2016;17:469-475  Long MD, Lin KYK. Crouzon Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:710-711  Passos-Bueno MR, Richier Costa A, Seritie AL, Kneppers A. Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. J Med Genet 1998; 35: 677–679  Quintero-Rivera F, Robson CD, Reiss RE, Levine D, et al. Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. Am J Med Genet A. 2006;140:1337-38 169
  • 170.  Roizen NJ, Patterson D. Down's syndrome. Lancet. 2003 Apr 12;361(9365):1281-9  Steingass KJ, Chicoine B, McGuire D, Roizen NJ. Developmental disabilities grown up: Down syndrome. J Dev Behav Pediatr. 2011 Sep;32(7):548-58  Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 1999;36:177-182  Golan I, Baumert U, and Muessig D. Cleidocranial Dysplasia. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003: 182-3  Dietz H. Marfan Syndrome. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:218-9  Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47:476-485  Dean JC. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet. 2007;15:274-33  McKusick VA. Ellis-van Creveld syndrome and the Amish. Nat Genet. 2000;24(3):283-6  Glavina D, et al. Hypohidrotic ectodermal dysplasia: dental features and carrier detection. Coll Antropol. 2001;25:303-10  Kargul B, et al. Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases. J Clin Pediatr Dent. 2001;26:5-12  Comi AM. Sturge-Weber Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:258 170
  • 171.  Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368:1971-1979  Burke, C. Peutz-Jeghers Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003:351-2  McGarrity TJ, Kulin HE, and Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol. 2000;95:596-604  Randall W Burt, MD. Gardner syndrome. UpToDate. January 2015  Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) Syndrome. Genet Med. 2004;6:530-539  Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. In: Neurocutaneous Syndromes, Roach ES, Miller VS, editors. 2004 Cambridge University Press, New York, NY. Pp. 77-87  Samad A, Mohan N, Balaji RV, et al; Oral manifestations of plummer-vinson syndrome: a classic report with literature review. J Int Oral Health. 2015 Mar 7(3):68-71  Novacek G; Plummer-Vinson syndrome. Orphanet J Rare Dis. 2006 Sep 15 1:36  Lee JS, FitzGibbon EJ, Chen YR, et al. Clinical guidelines for the management of craniofacial fibrous dysplasia. Orphanet J Rare Dis. 2012;7(Suppl 1):S2  Salenave S, Boyce AM, Collins MT, Chanson P. Acromegaly and McCune-Albright syndrome. J Clin Endocrinol Metab. 2014;99:1955-19969  Chapurlat RD, Gensburger D, Jimenez-Andrade JM, et al. Pathophysiology and medical treatment of pain in fibrous dysplasia of bone. Orphanet J Rare Dis. 2012;7:S3 171
  • 172.  Allanson JE. Noonan Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia, PA: Lippincott, Williams and Wilkins; 2003: 722-723  Faughnan, M. E., et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Journal of medical genetics. 2011:48.2:73-87  McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management and pathogenesis. Genet Med 2011;13:607  Lamey PJ, Gibson J, Barclay SC, Miller S. Grinspans’s syndrome: A drug-induced phenomenon? Oral Surg Oral Med oral Pathol 1990;70:184-5  Borghelli R.F., Pettinari I.L., Chuchurru J.A., et.al. Oral lichen planus in patients with diabetes. An epidemiologic study. Oral Surg. Oral Med. Oral Pathol; 1993: 75, pp. 498-500  Ramesh BA. Ascher syndrome: Review of literature and case report. Indian J Plast Surg. 2011 Jan-Apr; 44(1):147-149  Dutt SN and Irving RM. Melkersson-Rosenthal Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003:557  Kovich OI and Cohen DE. Granulomatous cheilitis. Dermatology Online Journal 2004;10(3):10  Susser WS, Chapman MS. Parry-Romberg Syndrome. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:232-233  El-Kehdy J, Abbas O, Rubeiz N. A review of Parry-Romberg syndrome. J Am Acad Dermatol 2012;67:769–84172
  • 173.  Choufani S, Shuman C, Weksberg R. Beckwith-Wiedemann Syndrome. Am J Med Genet C Semin Med Genet. 2010; 154C:343–54  Fauci AS, et al., eds. Harrison’s Principles of Internal Medicine, 14th Ed. New York, NY: McGraw-Hill, Inc; 1998:2169-76  Muenzer J and Fisher A. Advances in the Treatment of Mucopolysaccharidosis Type I. New Engl J Med. 2004;350:1932-34  Wraith JE, Scarpa M, Beck M, et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. European Journal of Pediatrics. 2008;167(3):267-277. doi:10.1007/s00431-007-0635-4  Wattendorf DJ, Muenke M. Klinefelter syndrome. Am Fam Physician. 2005;72(11):2259-62  Rubinstein JH. Rubinstein-Taybi Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:726-7  Houweling AC, Gille JJP, Baart JA, van Hagen JM, Lachmeijer AM. Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. Clin Dysmorphol. 2009;18:225-227  Driva T, Franklin D, Crawford PJ. Variation in expression of oral-facial-digital syndrome (type I): report of two cases. Int J Paediatr Dent. 2004;14:61-68  Neville BW, Doughlas D, Allen C, Bouquot J. Oral and Maxillofacial Pathology. 3rd edition. Philadelphia: Saunders Elsevier, 2014  Rajendran R, Sivapathasundharam B. Shafer’s Textbook of Oral Pathology. 6th edition. India: Elsevier, 2009  Sweeney CJ, Gilden DH. Ramsay Hunt syndrome. J Neurol Neurosurg Psychiatry. 2001;71:149-54  Coleman G, Nelson J. Principles of Oral Diagnosis. Mosby, 1993  Gorlin R, Cohen M, Hennekam R. Syndromes of the head and neck. 4th edition. New York: Oxford, 2001 173
  • 174. 174
  • 175. Discussion: Down syndrome and caries:  Salivary S. mutans (serotype g and c) specific IgA concentrations were significantly higher in Down syndrome children leading to lower incidence of dental caries. Lee SR et al,. Dental caries and salivary immunoglobulin A in Down syndrome children. J Paediatr Child Health. 2004 Sep-Oct;40(9-10):530-3 175
  • 176. Low set ears:  The ear is low-set when the helix of the ear meets the cranium at a level below that of a horizontal plane through both inner canthi (the inside corners of the eyes) Sivan Y, Merlob P, Reisner SH (June 1983). "Assessment of ear length and low set ears in newborn infants". J. Med. Genet. 20 (3): 213–5 176
  • 177. Oral surgical considerations (Extraction) in Ehlers Danlos Syndrome  Avoided as far as possible.  Clotting profiles should be checked prior to extraction.  Desmopressin may be indicated.  Mucoperiosteal flap should be raised with care.  Absorbable haemostatic agents to be applied after extraction.  Better to tie sutures under slight tension, taking larger sections of tissue.  Care must be taken while using forceps and applying pressure to gums and surrounding structures.  Pre-fabricated acrylic plate may be required over extraction site. Dentistry Medical Resource Guide, 2007. Ehlers Danlos National foundation. 177
  • 178. Pinky in Apert syndrome  Pinky: involves syndactyly of Pinky finger (little finger) Flatt A (1 January 2005). "Webbed fingers". Proceedings (Baylor University. Medical Center). 18 (1): 26–37 178
  • 179. Infective endocarditis prophylaxis:  Robin sequence  Apert syndrome  Ehlers Danlos syndrome  Marfan syndrome  Ellis Van Creveld syndrome 179
  • 180. Surgical options for airway obstructions in Robin sequence  Tracheostomy (Gold Standard)  Nasopharyngeal airway  Tongue-lip adhesion  Distraction osteogenesis of mandible. Marcellus L. The infant with Pierre Robin sequence: review and implications for nursing practice. J Pediatr Nurs. 2001;16(1):23–34 180
  • 181. Height (short stature) Nepal  Male: 163 cm (5 feet 4 inch)  Female: 150 cm (4 feet 11 inch) Subramanian, S. V.; Özaltin, Emre; Finlay, Jocelyn E. (2011). "Height of Nations: A Socioeconomic Analysis of Cohort Differences and Patterns among Women in 54 Low- to Middle-Income Countries 181
  • 182. 182
  • 183. 183
  • 184. 184 • Bifurcation is slightly apical to normal. • Bifurcation at the middle of the root. • Bifurcation at apical one third or no bifurcation at all.
  • 185. In which week of 2nd trimester morphologic alteration in Usg is seen 18-23 weeks. Diagnosis of fetal abnormalities-The 18-23 weeks scan. Fetal medicine Foundation, London 185
  • 186. Different forms of iron and iron supplement  Ferrous fumarate  Ferrous gluconate  Ferrous sulfate  Does: 120 mg iron + 400 µg folic acid daily for 3 months DeMaeyer EM, Dallman P, Gurney JM, et al (1989) Preventing and controlling iron deficiency anaemia through primary health care: a guide for health administrators and programme managers. Geneva: World Health Organization Gillespie S, Kevany J, Mason J (1991) Controlling iron deficiency. ACC/SCN Stateof-the-Art Series Nutrition Policy Discussion Paper No. 9. United Nations 186
  • 187. Genetic clinic around the country  Bir Hospital  IOM 187
  • 188. Chediak Higashi Syndrome (Begnez-Cesar's Syndrome, Chediak-Steinbrinck-Higashi Syndrome, CHS, Leukocytic Anomaly Albinism, Natural Killer Lymphocytes, Defect in, Oculocutaneous Albinism, Chediak-Higashi Type)  Chediak and Higashi: 1952 and 1954  Mutation: CHS 1 gene encoding lysosomal trafficking protein.  Inheritance: AR  Incidence: less than 500 cases has been reported in last 20 years. 188
  • 189.  Partial oculocutaneous albinism.  Easy bruisability and bleeding(result of deficient platelet dense bodies).  Abnormal natural killer cell function  Ulcerations of the Oral Mucosa  Severe Gingivitis and  Glossitis  Periodontitis (probably related to defective leukocyte function) 189
  • 190. Management  No specific treatment.  Often fatal.  Death occurring before child reaches the age of 10 years 190
  • 191. Difference between lichen planus and lichenoid reaction  Neither clinical nor histopathologic features enable discrimination between different lichenoid reactions:  Oral lichen planus  Lichenoid contact reactions  Lichenoid drug eruptions  Lichenoid reactions of graft-versus-host disease (GVHD) 191
  • 192. Antihypertensive and oral hypoglycemic causing lichenoid reaction  Antihypertensive:  ACE inhibitors (Captopril, Lisonopril)  Oral hypoglycemic:  Metformin 192
  • 193. Telangiectasia  Telangiectasia is a condition in which widened venules (tiny blood vessels) cause threadlike red lines or patterns on the skin. These patterns, or telangiectases, form gradually and often in clusters.  They're sometimes known as “spider veins” because of their fine and weblike appearance. 193
  • 194. Diagnosis of Polycythemia vera: WHO 2016 Major criteria:  Hemoglobin >16.5 g/dL in men and >16 g/dL in women, or hematocrit >49% in men and >48% in women, or red cell mass >25% above mean normal predicted value  Bone marrow biopsy showing hypercellularity for age, including prominent erythroid, granulocytic, and megakaryocytic proliferation with pleomorphic, mature megakaryocytes (differences in size)  Presence of JAK2V617F or JAK2 exon 12 mutation Minor criteria:  Serum erythropoetin level below normal. 194
  • 195.  Criterion 2 (bone marrow biopsy) may not be required in patients who have sustained absolute erythrocytosis (in men, hemoglobin/hematocrit of >18.5 g/dL/55.5% or in women, >16.5 g/dL/49.5%) if major criterion 3 and the minor criterion are present. All 3 major criteria or first 2 major criteria and minor criteria. 195
  • 196. Investigations for HHT Ideally no laboratory studies are widely available to confirm the diagnosis of HHT.  Oximetry is performed with the patient standing and supine for 10 minutes in each position. An oxygen saturation level of less than 96% in either position is considered an indication for further testing.  When a complete blood count (CBC) is done, hemoglobin may be decreased because of chronic bleeding and iron-deficiency anemia, or the patient may be polycythemic because of chronic hypoxemia from a right-to-left shunt  The platelet count may be normal or slightly increased. 196
  • 197.  The white blood cell (WBC) count should be within the reference range unless an infectious complication (eg, a brain abscess) is present.  Coagulation profile findings may exclude a concurrent disorder or coagulopathy.  Prothrombin time (PT) and activated partial thromboplastin time (aPTT) values should be normal, unless severe liver involvement is present.  Urinalysis should be done to assess for hematuria.  Stool should be evaluated to look for the presence of blood.  Liver function tests may be deranged. 197
  • 198.  Arterial blood gas measurement can also be used as a screening test for pulmonary AVM. The quantification of a right-to-left shunt can be measured with the patient breathing 100% oxygen for at least 20 minutes. Giordano P, Lenato GM, Suppressa P, Lastella P, Dicuonzo F, Chiumarulo L, et al. Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children. J Pediatr. 2013 Jul. 163(1):179-86.e1-3 Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995 Oct 5. 333(14):918-24 198
  • 199. Iron supplement: to prevent iron deficiency anemia; PV syndrome Iron rich foods:  Red meat, pork and poultry  Seafood  Beans  Dark green leafy vegetables, such as spinach  Dried fruit, such as raisins and apricots  Iron-fortified cereals, breads and pastas  Peas 199 Vitamin C to enhance iron absorption • Broccoli • Grapefruit • Kiwi • Melons • Oranges • Strawberries • Tomatoes Baker, S. J., and E. M. DeMaeyer. 1979. Nutritional anemia: its understanding and control with special reference to the work of the World Health Organization. Am. J. Clin. Nutr. 32:368–417. Ballot, D. E., A. P. McPhail, T. H. Bothwell, M. Gillooly, and F. G. Mayet. 1989a. Fortification of curry powder with NaFe(III)EDTA in an iron deficient population: initial survey of iron status. Am. J. Clin. Nutr. 49:156–161
  • 200. Differential diagnosis of claw hands:  Hurler’s syndrome  Hunter’s syndrome  Leprosy  Gout, Pseudogout  Muscular dystrophy  Charcoat Marry tooth disease  Lyme disease  Whipple’s disease  Reactive arthritis  Systemic lupus erythematosus  Sarcododsis 200 Sapienza, A., & Green, S. (2012). Correction of the claw hand. Hand Clin, 28(1), 53-66. doi: 10.1016/j.hcl.2011.09.009
  • 201. Differential diagnosis of multiple impacted teeth  Cleidocranial dysplasia  Down syndrome  Gardner’s syndrome  Noonan syndrome  Osteopetrosis  Mucopolysachharadosis  Apert syndrome  Crouzon syndrome  Ehlers Danlos dyndrome  Klippel-Trenaunay syndrome  Orofacial digital syndrome  Sturge Weber syndrome 201 Bayar G, Ortakoglu K, sensimen M. Multiple impacted tooth: report of three cases and review of literature. Eur J Dent. 2008 Jan; 2: 73–78
  • 202. Vanishing Maxilla Gorham Stout syndrome  Spontaneous and progressive resorption and disappearance of osseous structures which is replaced by vascular connective tissue.  Although the disease is progressive and can be severely disfiguring, it is rarely fatal. It may progress unremittingly over years but can also spontaneously arrest  The osteoclast precursors of the patient with osteolysis were found to be more sensitive to stimulating and humoral factors, such as receptor activator of nuclear factor kappa B ligand (RANKL) and interleukin-6, and produce greater lacunar resorption 202
  • 203. 203 Gorham LW, Wright AW, Shultz HH, Maxon FC., Jr Disappearing bones: a rare form of massive osteolysis; report of two cases, one with autopsy findings. Am J Med 1954;17:674–682 Lee S, Finn L, Sze RW, Perkins JA, Sie KC. Gorham Stout syndrome (disappearing bone disease): two additional case reports and a review of the literature. Arch Otolaryngol Head Neck Surg 2003;129:1340–1343
  • 204. Lobulated tongue in OFDS  These are called as lingual Hamartomas.  Mutation in DDX59 gene Oral-facial digital syndrome. Genetics home reference. ghr.nlm.nih.gov/condition/oral-facial digital syndrome. Reviewed: February 2010, Published: January 17, 2013 204
  • 205. Cathepsin C: function  Cathepsin C (CTSC) also known as dipeptidyl peptidase I (DPP-I) is a lysosomal exo-cysteine protease belonging to the peptidase C1 family.  Cathepsin C catalyses excision of dipeptides from the N-terminus of protein and peptide substrates.  Cathepsin C functions as a key enzyme in the activation of granule serine peptidases in inflammatory cells, such as elastase and cathepsin G in neutrophils cells and chymase and tryptase in mast cells. Hola-Jamriska L, Tort JF, Dalton JP, Day SR, Fan J, Aaskov J, Brindley PJ (Aug 1998). "Cathepsin C from Schistosoma japonicum--cDNA encoding the preproenzyme and its phylogenetic relationships". European Journal of Biochemistry / FEBS. 255 (3): 527–34 205
  • 206.  Average inner intercanthal distance: 20-35 mm  Average interpupillary distance: 45-70 mm  Outer intercanthal distance: 75-105mm Resident Manual of Trauma to the Face, Head, and Neck, Ed. 1"" (PDF). Retrieved 12 January 2015 206

Hinweis der Redaktion

  1. Symp: subjective indication of an illness
  2. Stickler: midface hypoplasia, myopia, hearing loss Potters sequence: oligohydramnios, polycystic kidney, bilat renal agenesis Poland sequence: aplasia of chest wall muscle, underlying connective tissue, underdevelopment of underlying ribs SHORT: sort stature, hyperextensibility and hernia, ocular deformity (deep set eyes), reigers anomaly (congenital glaucoma), teething delay VATER anomalad as well as association
  3. Introducing self Using pts name/nick name Use patients language in normal terms Starting with non medical interaction Identify pts needs and prioritize it Discuss everything with confidentiality Use open ended and non leading question and Make sure the patient is comfortable
  4. failure of NCC to migrate or differentiate to ectomesenchymal cells affecting first and sec branchial arch
  5. Coloboma: defect in the structure of eye, eyelid, retina, iris, choroid
  6. Pharyngeal hypoplasia, sleep apnea, resp insufficiency DD: oculoauriculovertebral syndrome, maxillofacial dysostosis
  7. The most widely held view is that failure of the lower jaw to fully develop early in gestation causes the tongue to be positioned high in the oral cavity, which, in turn, prevents palate closure, downward displacement of tongue
  8. Stickler: arthropthalmopathy with robins sequence, arthritis, miosis Velocardiofacial syndrome: hypoparathyroidism, thymic aplasia, cardiac defects.
  9. Premature fusion of coronal and saggital suture Bulging eyeballs forward
  10. DD: apert syndrome nxt slide
  11. Pfeiffer syndrome, Saethre Chotzen syndrome, Jackson-Weiss syndrome
  12. DD: crouzon syndrome, acrocephalopolysyndactyly: carpenter syndome
  13. Brushfield spots, simian crease
  14. Trisomy 13 (patau): cleft lip palate, polydactyly, capillary haemangioma trisomy 18 (Edward): hypoplastic nails, small mouth, short sternum
  15. Core binding alpha factor , expressed in mesenchymal condensations of the developing skeleton and activity is later restricted to osteoblasts and is important for osteoblast differentiation.
  16. Wormian bones are a subset of the small intrasutural bones that lie between the cranial sutures formed by the bones of the skull vault
  17. DD: Apert syndrome, Crouzon syndrome
  18. Fragile vessels, prominent veins, severe bruising from minor trauma, spontaneous rupture of vessels Congenital scoliosis Congenital hip dislocations/ joint dislocations very common Fragile skin, easy brusing, umbilicak/inguinal hernias
  19. 2. Velvety skin 3.Gorlins sign, 3, 5. Limber, 7. parchment paper scars (moisture and grease resistant), 8. cigarette paper like scarring
  20. More than equal to 4, DD: Marfan syndrome, Acromegaly
  21. Affects elastic fibresa and collagen metabolism
  22. DD: ehler danlos syndrome, homocystinuria,
  23. DD: trisomy 13, orofacial digital syndrome
  24. Hereditary ectodermal dysplasia: Ellis van crevald syndrome Focal dermal hyperplasia Palmoplantar ectodermal dysplasia
  25. Pruritis: severe itching ecze,ma: patch of skin becomes rough and inflamed with blisters causing itching/bleeding Eccrine/ merocrine: multicellular glands that don’t lose cytoplasm in secretion, swet pal/sole enzymatic glands of GI Apocrine: relese some cytoplasm (sweat glands near hair follicle mammry glands Holocrine: disintegrated cells and products by rupture of plasma membrane , sebaceous
  26. DD: ellis van crevald syndrome
  27. An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children
  28. Nevus Flammeus or port wine stain Leptomeningeal angiomas, seizures, hemiparesis Glaucoma, bupththalmus, hydropthalmus, optic atrophy Macrocephaly
  29. Klippel trenaunay weber syndrome, kasabach merit syndrome, mafucci syndrome, osler rendu weber syndrome
  30. Pulsed dye laser: dynamic cooling sparay, 10mm spot size, 1.5 ms pulse width, energy: 8.5-9.5 J/cm sq, 12 lakh per unit
  31. Ileum , jejunum, rectum… DD: mc cune Albright syndrome, gardners syndrome
  32. Colon and rectum, multiple polyps, epidermoid cyst, osteomas
  33. Cowdwn syndrome, peutz jegher syndrome :DD facial paules, oral papilloma, gastrointestinal polyps
  34. BCC, hypertelorism micropthalmia, frontal bossing, bifid ribs calcification, miliea (small keratin filled cyst), palmar pits, polydactyly, Sprengel deformitykeratin 9 and 16: reactive inflammatory, idiopathic or congenital
  35. DD: basaloid follilar hamartomas with myasthenia gravis
  36. Cathepsin c
  37. Cathepsin c in urine DD: hyperkeratosis palmoplantaris and attached gingival hyperkeratosis
  38. DD: CREST syndrome and syndrome associated with haemangiomas
  39. Motamedi 1998: 1. Mandible no root, 2. maxilla mandible no root, 3. mandible root resorption, 4. mandible maxilla root resop, 5. max, mand, coronoid, condyle, 6. max mand orbit
  40. DD: turners syndrome
  41. Captopril 25 mg daily
  42.  weak or feel stiff and may result in the inability of affected individuals to smile, wrinkle the forehead or close their eye on the affected side. In some cases, speech may become slurred reddish (erythematous), painful, blistering (vesicular) rash that affects the outer portion of the ear (pinna) and often the external ear canal. In some cases, the rash, including painful blisters, may also affect the mouth, soft palate, and top portion of the throat ringing in the ear (tinnitus) and ear pain (otalgia)., transient hearing loss
  43. Hurler-Scheie Syndrome (MPS IH/S), accumulation of gag (heparin and contrition in lysosomes) Hurler Syndrome (MPS IH) Scheie Syndrome (MPS IS)
  44. Increases mucopolysaccharide in urine
  45. Early onset: more severe, mental retardation/ compression of tendon of wrist: carpel tunnel syndrome (compression of meadian nerve, pain tingling and numbeness) Late onset: mild, intelligence normal Oral findings similar to hurlers
  46. DD: Kabuki syndrome
  47. Digital features: Extra fingers and/or toes; unusually short fingers; webbed toes and/or fingers; clubfoot; rigid, bent fingers Face and skin: Hypertelorism, Strabismus, Alopecia, Broad base of nose, Angled ears
  48. Apert/ crouzon/ pieere/ treachher Collins/ velocardiofacial
  49. DD: scleroderma
  50. Clinodactyly, distal bones of thumbs and great toes angled, broad terminal phalanges
  51. Owing to the increasing complexity of medical genetics
  52. Clinical: same phenotype: cleft palate: orofacdig/ pierre robins syndrome Molecular: different alleleic mutations may lead to same disease
  53. Gene mapping describes the methods used to identify the locus of a gene and the distances between genes. The essence of all genome mapping is to place a collection of molecular markers onto their respective positions on the genome Identify and evaluate shape size and number of chromosome in sample of body cells. Method of making multiple copies of DNA
  54. 1. trencher, pierre 2. apert, crouzon, downs 3. ehler, marfan, 4. hereditary ectodermal, sturge, pj 5. nbccs, gardners, papillon
  55. 3.3 IU/l