Frontonasal dysplasia, coronal cranisoynostosis, pre‐ and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and varibale expression?
1983; Wiley; Volume: 24; Issue: 3 Linguagem: Inglês
10.1111/j.1399-0004.1983.tb02240.x
ISSN1399-0004
Autores Tópico(s)Congenital limb and hand anomalies
ResumoA case of fronotonasal dysplasia with coronal synostosis, pre‐ and postaxial polydactyly and longitudinally split nails is descirbed. One relative shows a bifid tumb, and several others have a longitudinally spilit nail and/or mild facial dysmorphy. An autosomal dominat inheritance with widely varibale expression of the mutant gene is suggested.
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