Craniofrontonasal dysplasia in a three-generation kindred.
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." We report a three-generation family in which five individuals (four females, one 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.
D000328:Adult; D003394:Craniofacial Dysostosis / Q000235:genetics* / Q000473:pathology; D003398:Craniosynostoses / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome