Craniofacial Congenital Syndromes

Inheritance is autosomal dominant with virtually complete penetrance. It is caused by multiple mutations in the fibroblast growth factor receptor 2 gene, FGFR2.The orbits are shallow with resulting exorbitism, which is due to the anterior positioning of the greater wing of the sphenoid. The middle cranial fossa is displaced anteriorly and inferiorly, which further shortens the orbit anteroposteriorly. The maxilla is foreshortened, causing reduction of the orbit anteroposteriorly. All these changes result in considerable reduction of orbital volume and resultant significant exorbitism. In severe cases, the lids may not close completely. The maxilla is hypoplastic in all dimensions and is retruded. This decreases the anteroposterior length of the orbital floor. Perhaps most important is the discussion of the role of aesthetic plastic surgery as the final step in the rehabilitation of patients undergoing longstanding and tedious reconstructive surgery for the repair of congenital, acquired, accidental, and neoplastic defects.

  • Kaufman oculocerebrofacial syndrome
  • Hereditary autoinflammatory diseases
  • Burn-McKeown syndrome
  • Chromatin remodelling
  • Congenital disease

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