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Syndromes of orofacial region mine

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This is a very comprehensive seminar on Syndromes of Orofacial region, easy classification and easy understanding.
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Syndromes of orofacial region mine

  1. 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. 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. 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. 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
  5. 5. Symptom vs Syndrome 5
  6. 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. 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. 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. 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. 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. 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
  12. 12. Syndromes with Deficient Mandible 12
  13. 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. 14
  15. 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. 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. 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
  18. 18. Micrognathia Glossoptosis Cleft palate 18
  19. 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. 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
  21. 21. Syndromes with Deficient Maxilla 21
  22. 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. 23. Craniosynostosis Head: Brachycephaly, Scalocephaly, Trigonocephaly, Cloverleaf deformity Proptosis: exposure keratitis, conjunctivitis Frontal bossing Midface hypoplasia 23
  24. 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. 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. 26. Apert Syndrome (Acrocephalosyndactyly I, syndactylic oxycephaly)  Eugene Apert:1906  1 in 65000 live birth.  Inheritance: AD  Mutation: FGFR 2 (Pro253Arg, Ser252Trp) 26
  27. 27. Craniosynostosis Midface hypoplasia Syndactyly Frontal flattening Hypertelorism Depressed nasal bridge Exophthalmos Mitten like syndactyly Valgus deformity Pinky Hallux Varus Acrocephaly 27
  28. 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. 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. 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. 31
  32. 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. 33.  Diagnosis: Clinical features, Imaging of craniofacial structures, molecular genetic testing  Prenatal: Amniocentesis, Chronic Villous Sampling, Ultrasonography 33
  34. 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. 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. 36
  37. 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. 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
  39. 39. Syndromes of Connective Tissue Deficiency 39
  40. 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. 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. 42
  43. 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. 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. 45. Marfan syndrome (Arachnodactyly)  Antoine Marfan: French Doctor, 1896  Incidence: 1 in 5000-10000 live births.  Inheritance: AD  Mutation: Fibrillin 1 (FBN1) 45
  46. 46. Dolicocephaly Ectopia lentis (dislocated eye lens) Myopia Dolichostenomelia Arachnodactyly Pectus excavatum/Carinatum Mitral valve prolapse/ Aortic aneurysm Scoliosis Pes planus 46
  47. 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. 48. Geneticists, Surgeons, Cardiologists, Dental specialists, Ophthalmologists, Orthopedists  Orthognathic surgery  Orthodontic treatment  Infective endocarditis prophylaxis before invasive procedure Management: Multidisciplinary approach 48
  49. 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. 50. Atrial septal defect Cryptoorchidism (Males) Diagnosis: Clinical features, Skeletal examination, Imaging modalities, Molecular genetics 50
  51. 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
  52. 52. Syndromes of Congenital Skin Abnormality 52
  53. 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. 54.  Inheritance: XR  Mutation: EDA  Incidence: 7 per 10000 live births 54
  55. 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. 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. 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. 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. 59.  Type I: Skin + Neorological symptoms  Type II: Skin symptoms + Glaucoma  Type III: Neurological symptoms 59
  60. 60. Diagnosis: clinical features, neuroimaging, EEG, Molecular genetics 60
  61. 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. 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. 63. Skin discoloration around eyes, nostrils, perianal areas. Diagnosis: Intestinal polyps, Melanin spots, positive family history (2 of 3) Molecular genetics 63
  64. 64. Management  Routine Endoscopy  Prevention of intestinal obstruction and cancer  Perioral pigmentation can be removed with laser if unesthetic  Genetic counselling 64
  65. 65. Syndromes that become apparent after infancy 65
  66. 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. 67
  68. 68. Oral manifestations: Multiple odontomes Multiple impacted supernumerary tooth Generalized failure of tooth to erupt Diagnosis: sigmoidoscopy, colonoscopy, Imaging modalities, molecular genetics 68
  69. 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. 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
  71. 71. 71 Sprengel deformity
  72. 72. Oral manisfestations  Multiple KCOT  Displaced permanent tooth  Ectopic eruption of tooth  Malocclusion 72
  73. 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. 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. 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. 76.  Dystrophic nails  Pyogenic skin infections (furuncles)  Hyperhydrosis 76
  77. 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. 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. 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. 80.  Iron deficiency anemia (microcytic, hypochromic)  Dysphagia  Facial palor  Fatigue  weakness Schatzki ring 80
  81. 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. 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. 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. 84.  Incidence: 1 in 10000 live births.  Inheritance: AD  Mutation: ACVRL1, ENG, and SMAD4 84
  85. 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. 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. 87
  88. 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
  89. 89. Syndromes associated with Fibro-osseous Lesions of Jaws 89
  90. 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. 91
  92. 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. 93. Endocrinopathies:  Precocious puberty (gonadotrophins)  Hyperthyroidism (thyroid)  Macrocephaly/ acromegaly (growth)  Cushing syndrome (cortisol) 93
  94. 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. 95
  96. 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. 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. 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. 99
  100. 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. 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. 102. Syndromes associated with Red and white lesions of oral cavity 102
  103. 103. Grinspan Syndrome  Grinspan: 1963 observed.  Grupper & Avul: 1965 confirmed and defined this complex as "Grinspan's syndrome”  Incidence: 10% 103
  104. 104. Hypertension Diabetes mellitus Lichen planus Diagnosis 104
  105. 105. It is likely that Grinspans’s syndrome represents a drug induced disorder 105
  106. 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
  107. 107. Syndromes associated with Facial nerve Palsy 107
  108. 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. 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
  110. 110. Diagnosis: Clinical features 110
  111. 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. 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. 113. Diagnosis: clinical features, Biopsy of lip 113
  114. 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
  115. 115. Syndromes associated with Mucopolysaccharodosis 115
  116. 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. 117.  Progressive mental retardation  Organomegaly  Poor growth  Joint stiffness  Hydrocephalus  Aortic Regurgitation 117
  118. 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. 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. 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. 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. 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. 123. Syndromes primarily associated with Cleft Lip and Palate 123
  124. 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. 125. Diagnosis: clinical features, radiographs, molecular genetics 125
  126. 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. 127. Orofacial Digital Syndrome  Mutation: CXORF5  Incidence: 1 in 50000 live birth. 127
  128. 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. 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. 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. 131. Diagnosis: Clinical features, Maxillofacial imaging, Molecular genetics 131
  132. 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
  133. 133. Miscellaneous syndromes 133
  134. 134. Ascher’s Syndrome  Laffer-Ascher: 1920  Underlying cause is unknown  Incidence: 10%  Inheritance: Not inherited 134
  135. 135.  Double lip  Blepharochalasis  Non toxic thyroid enlargement (goiter) Diagnosis 135
  136. 136. Management: Multidisciplinary Approach Opthalmologist, Endocrinologist, Dental specialist  Esthetic/ Cosmetic surgery is the treatment of choice 136
  137. 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. 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. 139. • Malformed pinna • Progressive hearing loss • Micropthalmia • Alopecia • Migraine Headache • Epileptic seizures • Hypo/Hyperpigmented areas in skin 139
  140. 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. 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. 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. 143.  Inheritance: AD  Mutation: CDKN1C, H19, IGF2, and KCNQ1OT1  Incidence: 1 in 13700 live births. 143
  144. 144.  Neonatal Hypoglycemia  Hemihyperplasia/hemihypertrophy  Organomegaly  Nephrocalcinosis 144
  145. 145. Oral manifestations:  Macroglossia  Hemihypertrophy/hemihyperplasia of face  Malocclusion  Mandibular prognathism Diagnosis: Clinical features, Blood glucose level, Molecular genetics Prenatal: Ultrasonography 145
  146. 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. 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. 148. Diagnosis: Clinical features, Chromosome karyotype analysis on blood Prenatal: Amniocentesis, Chronic villous sampling 148
  149. 149. Management: Multidisciplinary approach Physicians, Endocrinologist, General surgeons, Dental specialist, psychologist, Geneticist  Tricky extraction and Root Canal treatment of tooth with Taurodontism 149
  150. 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. 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. 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. 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
  154. 154. Genetic services, Counselling and Screening 154
  155. 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. 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. 157. OPTIONS  No further action  Restrict Family size  Adoption  Artificial Insemination  Ovum donation 157
  158. 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. 159. Way through…  Karyotyping  Gene mapping  Polymerase chain reaction  Ultrasonography 159
  160. 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. 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. 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. 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. 164. Lets Recall…  Micrognathia, glossoptosis and cleft palate is associated with  Treacher Collins syndrome  Mandibulofacial dysostosis  Pierre Robins syndrome  Crouzon syndrome 164
  165. 165.  Which is not the feature of Apert Syndrome  Wormian bones  Hallux varus  Acrocephaly  Valgus deformity 165
  166. 166.  The picture demonstrates________ in Ehlers Danlos syndrome  Cigarette paper Scar  Parchment scarring  Limber  Velvety skin 166
  167. 167.  Gene associated with NBCCS is  CTSC  PTCH1  GNAS1  ACVRL1 167
  168. 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. 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. 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. 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. 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. 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. 174
  175. 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. 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. 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. 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. 179. Infective endocarditis prophylaxis:  Robin sequence  Apert syndrome  Ehlers Danlos syndrome  Marfan syndrome  Ellis Van Creveld syndrome 179
  180. 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. 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. 182
  183. 183. 183
  184. 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. 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. 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. 187. Genetic clinic around the country  Bir Hospital  IOM 187
  188. 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. 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. 190. Management  No specific treatment.  Often fatal.  Death occurring before child reaches the age of 10 years 190
  191. 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. 192. Antihypertensive and oral hypoglycemic causing lichenoid reaction  Antihypertensive:  ACE inhibitors (Captopril, Lisonopril)  Oral hypoglycemic:  Metformin 192
  193. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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

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