We describe a second family with four affected members in three successive generations with a rare nail dysplasia syndrome. The syndrome, which was first reported by Cooks et al in 1985, is characterised by bilateral nail hypoplasia of digits 1-3, with absence of nails of digits 4-5 of the hands, and total absence of all toe nails. In addition, there is absence/hypoplasia of the distal phalanges of the hands and feet. Our family confirms this syndrome as a distinct entity with autosomal dominant inheritance.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.