Orofacial Syndromes pathology ver2.pptx

Oral

1. Orofacial Syndromes Asssociate Prof Dr. Farah Farhan Oral Pathology 1

2. Cleidocranial Dysplasia 2

3. Cleidocranial Dysplasia 3

4. Cleidocranial Dysplasia It is a congenital condition transmitted as autosomal dominant trait It is manifested as retardation or partial failure of the development of the bones of the clavicle 4

5. Etiology Mutation in the core binding factor alpha (CBFA) gene location on chromosome 6p21 is the cause of Cleidocranial Dysplasia 5

6. Clinical Features Characterized by abnormalities of skull, teeth, jaw, shoulder girdle as well as by occasional stunting of long bones Head is brachycephalic Paranasal sinuses are underdeveloped and narrow Faulty development of foramen magnum Dysplasia of paranasal sinuses 6

7. Oral Manifestations Maxillary macrognathia Prolonged retention of deciduous teeth and subsequent delay in eruption of teeth Complete absence of cementum Disorganization of developing permanent dentition Presence of supernumerary teeth usually in anterior region High narrow arched palate and cleft palate Roots of teeth are often short and thinner than normal 7

8. Cleidocranial Dysplasia 8

9. Cleidocranial Dysplasia 9

10. Crouzon Syndrome (Craniofacial Dysostosis ) 10

11. Crouzon Syndrome (Craniofacial D ysostosis ) Autosomal dominant condition Characterized by cranial synostosis , ocular proptosis and hypoplastic maxilla 11

12. Etiology Gene mutation in Fibroblast Growth Factor Receptor , located on chromosome 10 12

13. Crouzon Syndrome (Craniofacial Dysostosis ) 13

14. Physical Findings Tall, flattened forehead Brachycephaly Exophthalmos Hypertelorism Maxillary hypoplasia Beaked nose 14

15. Oral Manifestations Cleft soft palate Delayed eruption Ectopic eruption Shovel shaped incisors Anterior and posterior crossbite Sever crowding of teeth 15

16. Pierre-Robin Syndrome 16

17. Pierre-Robin Syndrome A congenital condition of facial abnormalities Autosomal recessive 17

18. Etiology Mutation in SOX9 gene 18

19. Oral Manifestations Cleft palate Retrognathia Macroglossia Ankyloglossia 19

20. Oral Manifestations 20

21. Down’s Syndrome 21

22. Down’s Syndrome Trisomy 21(Down Syndrome;Mangolism ) Incidence – 1-800 live births (because of nondisjunction ) Increasing maternal age >30 yrs 22

23. Clinical Features General Mental retardation Hypotonia Short stature Flat occiput Small ears Small head and open mouth 23

24. Clinical Features Cranio -Facial Flat occiput Oblique palpebral fissures Speckled iris ( Brushfield spots) Protruding tongue Prominent malformed ears Flat nasal bridge High-arched palate Strabismus Broad, short neck Small teeth Furrowed tongue 24

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26. Hands and Feet Simian crease Short, broad hands Hypoplasia of middle phalanx of 5th finger Gap between 1st and 2nd toes 26