Craniofacial Congenital Syndromes

Inheritance is autosomal dominant with virtually complete penetrance. it's caused by multiple mutations within the fibroblast protein receptor two gene, FGFR2.The orbits are shallow with ensuing exorbitism, that is because of the anterior positioning of the larger wing of the sphenoid bone. The middle bone fossa is displaced anteriorly and inferiorly, that additional shortens the orbit anteroposteriorly. The maxilla is foreshortened, inflicting reduction of the orbit anteroposteriorly. Of these changes lead to significant reduction of orbital volume and resultant important exorbitism. In severe cases, the lids might not shut fully. maybe most vital is that the discussion of the role of aesthetic cosmetic surgery because the final step within the rehabilitation of patients undergoing long and tedious reconstructive surgery for the repair of congenital, acquired, accidental, and growth defects.

 

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

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