Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression?
A case of frontonasal dysplasia with coronal synostosis, pre- and postaxial polydactyly and longitudinally split nails is described. One relative shows a bifid thumb, and several others have a longitudinally split nail and/or mild facial dysmorphy. An autosomal dominant inheritance with widely variable expression of the mutant gene is suggested.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D003398:Craniosynostoses / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009264:Nails, Malformed / Q000235:genetics; D010375:Pedigree; D014034:Toes / Q000002:abnormalities