Thyroid function tests for MBBS, LAB. MED & BDS.pptx
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
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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
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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
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
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
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
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
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
Symp: subjective indication of an illness
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
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
failure of NCC to migrate or differentiate to ectomesenchymal cells affecting first and sec branchial arch
Coloboma: defect in the structure of eye, eyelid, retina, iris, choroid
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
Trisomy 13 (patau): cleft lip palate, polydactyly, capillary haemangioma
trisomy 18 (Edward): hypoplastic nails, small mouth, short sternum
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.
Wormian bones are a subset of the small intrasutural bones that lie between the cranial sutures formed by the bones of the skull vault
DD: Apert syndrome, Crouzon syndrome
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
2. Velvety skin 3.Gorlins sign, 3, 5. Limber, 7. parchment paper scars (moisture and grease resistant), 8. cigarette paper like scarring
More than equal to 4, DD: Marfan syndrome, Acromegaly
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
DD: ellis van crevald syndrome
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
Nevus Flammeus or port wine stain
Leptomeningeal angiomas, seizures, hemiparesis
Glaucoma, bupththalmus, hydropthalmus, optic atrophy
Macrocephaly
DD: basaloid follilar hamartomas with myasthenia gravis
Cathepsin c
Cathepsin c in urine DD: hyperkeratosis palmoplantaris and attached gingival hyperkeratosis
DD: CREST syndrome and syndrome associated with haemangiomas
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
DD: turners syndrome
Captopril 25 mg daily
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
Hurler-Scheie Syndrome (MPS IH/S), accumulation of gag (heparin and contrition in lysosomes)
Hurler Syndrome (MPS IH)
Scheie Syndrome (MPS IS)
Increases mucopolysaccharide in urine
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
DD: Kabuki syndrome
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
Clinodactyly, distal bones of thumbs and great toes angled, broad terminal phalanges
Owing to the increasing complexity of medical genetics
Clinical: same phenotype: cleft palate: orofacdig/ pierre robins syndrome
Molecular: different alleleic mutations may lead to same disease
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