1. Resident conference May 26, 2011 Martin Paukert

2.  Wide variety of congenital craniofacial anomalies ◦ Syndromic craniofacial dysostoses ◦ Cleft lip/palate ◦ Non-syndromic craniosynostoses ◦ Hemi-facial microsomia

3.  Craniosynostosis overall 1 in 2500 ◦ Majority of those isolated (non-syndromic) ◦ Syndromic craniosynostoses 1 in 25,000

4.  Defect in fibroblast growth factor mediated development. ◦ Mutations in FGFR associated with both syndromic and non-syndromic craniosynostoses. ◦ FGFR tyrosine kinase transmembrane receptor protein ◦ Exact molecular mechanism still unclear.

6.  Crouzon syndrome ◦ Most common syndromic craniofacial dysostosis. ◦ Defect in FGFR2 (multiple different mutations can cause same phenotype) ◦ Bicoronal synostosis (with resultant brachycephaly) ◦ Midface hypoplasia ◦ Exorbitism (can be severe) ◦ Conductive hearing loss ◦ No hand/finger abnormalities

7.  Crouzon Syndrome

8.  Apert Syndrome ◦ Generally more severe deformity ◦ FGFR2 mutation (only a few mutations identified to cause Apert) ◦ Bilateral coronal synostosis with variable lambdoid synostosis (with resultant turribrachycephalic skull) ◦ Midface hypoplasia (so severe often causes airway obstruction – can require trach) ◦ Hydrocephalus in 5-10% requiring VP shunt ◦ Lower than average IQ ◦ 2,3,4 finger syndactaly

9.  Apert Syndrome

10.  Pfeiffer Syndrome ◦ Three types  I: bilateral coronal synostosis, variable midface hypoplastia, minimal proptosis, normal IQ  II: pansynostosis, severe midface involvement, exorbitism, hydrocephalus, low IQ broad thumbs and toes  III: same as II but without pansynostosis

11.  Pfeiffer Syndrome

12.  Saethre-Chotzen ◦ Autosomal dominant inheritance, variable penetrance ◦ Bilateral coronal synostoses with brachycephaly ◦ Low hairline and facial asymmetry ◦ Maxillary hypoplasia ◦ Normal IQ ◦ Cutaneous syntactaly

13.  Saethre-Chotzen

14.  Functional considerations ◦ Elevated ICP  Increased number of fused sutures leads to increased risk of elevated ICP ◦ Hydrocephalus  Etiology unclear, no from direct compression ◦ Vision loss  Elevated ICP can lead to optic nerve atrophy  Severe exoculism and globe exposure with direct globe trauma

15.  Controversial  Staged approach accepted by most

16.  6-10 months: cranial vault remodeling with fronto-orbital release ◦ Decompresses cranial vault – corrects elevated ICP ◦ Increases orbital depth – better coverage of globes ◦ Decrease subsequent turribrachycephaly. ◦ May require repeat cranial remodeling for increased ICP, significant deformity

17.  Fronto-orbital advancement

18.  4-8 years: LeFort III osteotomy and advancement ◦ Addressess midface hypoplasia ◦ Can be either conventional or with distraction osteogenesis. ◦ When performed early for severe midface hypoplasia, may require second advancement as teenager.

19.  LeFort III – conventional

20.  LeFort III – distraction osteogenesis

21.  14-18 years: orthognathic surgery ◦ Facial skeleton now mature ◦ Addresses occlusal mismatch ◦ Typically involves pre-op orthodontics followed by LeFort I osteotomy ± mandibular advancement/recession

22.  LeFort I

23.  15-19y: contouring ◦ Bone grafting, implants, smoothing bone for cosmetic purposes.

24.  Results LeFort III Advancement Age 10 Apert syndrome

25.  Results Fronto-orbital + LeFort III Pfeiffer syndrome

26. Thank You Questions?

27. Thorne, C et al. Grabb & Smiths Plastic Surgery 6 th Ed. 2007 Mathes, S et al. Plastic Surgery 2 nd Ed. 2006