CRANIOFRONTONASAL DYSPLASIA IN A 3-GENERATION KINDRED

Abstract

Frontonasal dysplasia, a nonspecific defect in a developmental field complex and craniosynostosis usually occur as isolated sporadic events. Cohen recently described a syndrome that includes both of these defects, which he called craniofrontonasal dysplasia. A 3 generation family is reported in which 5 individuals (4 females, 1 male) have varying degrees of frontonasal dysplasia and craniosynostosis. The mode of inheritance is unclear, and possible explanations include autosomal dominant with sex-influenced expression, X-linked dominant and metabolic interference. This family and others reported in the literature represent a subpopulation of patients with frontonasal dysplasia who are at high risk for recurrence.