DEVELOPMENTAL DISTURBANCES OF THE FACE AND JAWS (part 1)

1. DEVELOPMENTAL DISTURBANCES OF THE FACE AND JAWS(part 1) BY : NASUHA MAARIF

2. Cleft lip and Cleft Palate • Crouzon Syndrome • HemifacialMicrosomia • Treacher Collins Syndrome • Cleidocranial Dysplasia • Hemifacial Hyperplasia • Segmental Odontomaxillary Dysplasia • Lingual Mandibular Bone Depression • Focal Osteoporotic Bone Marrow

3. Cleft lip and Palate • Cleft lip • Cleft palate • Cleft lip and palate (unilateral or bilateral) Failure of fusion of developmental processes during fetal development - 1 : 1000 • Strong genetic predisposition. • Can be associated with syndromes ; • Van derWoude • Pierre Robin • 22q.11 deletion syndrome ( velocardiofacial syn. ) • other factors eg : nutritional deficiencies, smoking, anticonvulsants , stress , defects of vascular supply

5. Clinical features … Cleft lip with or without cleft palate : • Failure of fusion of the medial nasal process with maxillary process • > males • Severity : range from unilateral clefting to bilateral complete clefting through lip,alveolus, hard palate, soft palate . Cleft palate : • Failure of fusion of the lateral palatal shelves • > female • Minimal manifestation : submucosalclefting ( bifid uvula , notched in posterior border of hard palate ) Cleft lip , cleft palate severity forms Problems … • Dental anomalies like missing, hypoplastic, supernumerary teeth and enamel hypoplasia • Speech • Swallowing • Middle ear infections

7. Radiographic features… A A : Bilateral clefts of the maxilla in the lateral incisor regions and defects of the dentition B : Lateral cephalometric view showing underdevelopment of maxilla B

8. Coronal view : discontinuity in the nasal floor Sagittal view : maxillary hypoplasia and deficient palatal anatomy

9. A B CT scan of an 11 year old male, A : nasal deviation to affected side B : cleft through alveolar process and nasal cavity C : cleft is corticated and completely through palate C

10. Management… • Cleft palate team : • Plastic and reconstructive surgeon • Oral and maxillofacial surgeon • ENT surgeon • Orthodontist • Dentist • Speech therapist • Psychologist • Nutritionist • 3 months : close cleft lip 1 year old : surgical closure of palate • Bone grafting, dental prosthesis or implants , orthodontic treatment

11. Crouzon Syndrome • Also called craniofacial dysostosis / syndromiccraniosynostosis / premature craniosynostosis • Autosomal dominant. Mutation in fibroblast growth factor receptor 2 on chr. 10. • 1:25,000 births • Characterize by: • Premature closure of cranial sutures with usually the coronal suture closes first before the others. • Premature fusion of synchondroses of the cranial base

12. Clinical features… • Brachycephaly • Hypertelorism • Orbital proptosis • Blind ? • Prominent nose • Narrow and retruded maxilla • Short vertical and A-P dimension • Hypoplastic and retruded ANS • High palatal vault • Crowding of teeth

13. Radiographic features… • General features • Sclerosis of sutures and overlapping edges • Diminished facial growth due to premature fusion of the cranial base. Clinical forms may precede radiographic characteristics. • Prominent cranial markings or ‘beaten metal appearance’ in growing children • Features of the Jaws • Maxillary hypoplasialeads to class 3 malocclusion and orbital proptosis • Mandible appears prognathic

14. Radiographic features… 2 year old boy : orbital proptosis, hypertelorism, midfacialhypoplasia. Lateral skull view shows short A-P dimension,digital impressions, and hypoplastic maxilla

15. Radiographic features…

16. Radiographic features…

17. Management • Surgical and orthodontic treatment from infancy through adolescence by CRANIOFACIAL TEAM • Objectives : to allow normal brain growth, prevention of increased Intra-Cranial Pressure, protect eyes by providing bony support and improve facial esthetics and occlusal function • Normal intelligence and life span with early dx

18. HemifacialMicrosomia • Also called hemifacialhypoplasia /craniofacial microsomia / lateral facial dysplasia / Goldenhar syndrome or oculoauriculovertebral dysplasia • 1:56,000 births, 2nd most common after cleft lip and palate • Autosomal dominant • Abnormal development of first and second brachial arches resulted in reduced development of half of the face. If bilateral ; craniofacial microsomia • More in Males 3:2 , more in right side 3:2 • Involvement of other vertebral abnormalities and epibulbardermoids is considered as Goldenhar syndrome. ( Oculo- Auricular – Vertebral syndrome )

19. Clinical features… • Aplasia or hypoplasia of the external ear • Missing ear canal • Small skull • Delayed dental eruption , hypodontia • Malocclusion on the affected side • Occlusal plane will be canted up to the affected side

20. Radiographic features… • Reduction in bone sizes on the affected side. Clearest in mandible. • Mandible : lack of development of condyle,coronoidprocess,ramus, and body • Dental : reduction in number and size • Muscles : small muscles of mastication and facial expression • Ear : hypoplasia or atresia of auditory canal and ossicles of middle ear. • Facial nerve : abnormal course

21. Note the complete absence of TMJ and coronoid process as well as auditory canal atresia Reduced size and malformation of the left ear and left side of mandible

22. Lack of development of ramus, coronoid process, and condyle

23. Muscles of mastication in 7-year-old girl with left hemifacialmicrosomia. Axial CT scan shows normal right masseter muscle (straight arrow) and medial pterygoid muscle (arrowhead) compared with hypoplastic left medial pterygoid muscle (wavy arrow) and essentially absent masseter muscle

24. Diiferential diagnosis.. • Codylarhypoplasia caused by fracture at birth or Boering’sarthrosis They dont produce the ear changes • Exposure to radiation therapy during child • Progressive hemifacial atrophy in Parry – Romberg syndrome They become more severe over time and not present at birth. Plus, ears are normal

25. Management… • Mandibular : Corrected by orthognathic surgery or distraction osteogenesis. • Ear : Plastic surgery or maxillofacial prosthetics • Hearing loss : Hearing aid or cochlear implants

26. Treacher Collins Syndrome • Most common type of mandibulofacialdysostosis • Autosomal dominant , 1 : 50,000 births • Mutation in TCOF1 gene on chr. 5

27. Clinical features… • Depends on severity • Underdevelopment or absence of zygomatic bone • Small narrow face • Downward inclination of the palpebral fissures • Underdevelopment of mandible, retruded chin • Downturned , wide mouth • Malformation of external ears • Absence of auditory canal • Partial or complete deafness • 30% have clefts • Angle Class 2 anterior open-bite

28. Radiographic features… • Striking findings : Missing zygomatic bones and hypoplasia of the lateral aspects of the orbits • Small or absence of the auditory canal, mastoid air cells, and articular eminence • Small maxilla and especially mandible. Accentuation of antegonial notch and a steep mandibular angle ( body bends inf – post direction ) • Especially short ramus • Condyles positioned posteriorly and inferiorly • Underdeveloped maxillary sinus or absent.

30. Bilateral auditory canal atresia, aplasia of the zygomatic arch , and hypoplasia of the mandibularramus with characteristic ‘curved’ shape of the mandibular body and pronounced antegonial notching

31. Differential Diagnosis.. Other disorders that may result in severe hypoplasia of entire mandible .. • Condylar agenesis • Hallermann-Streiff syndrome • Nager syndrome • Pierre Robin sequence

32. Management… • CRANIOFACIAL team • Surgical intervention including bilateral distraction osteogenesis of the mandible • Plastic surgery and maxillofacial prosthetics for the ears • Hearing aids and cochlear implants for hering loss • Orthodontics and orthognathic surgery