Frontonasal dysplasia, coronal cranisoynostosis, pre‐ and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and varibale expression?
- 1 September 1983
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 24 (3) , 200-205
- https://doi.org/10.1111/j.1399-0004.1983.tb02240.x
Abstract
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.Keywords
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