| Literature DB >> 7473658 |
N C Nevin1, P S Thomas, D J Eedy, C Shepherd.
Abstract
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.Entities:
Mesh:
Year: 1995 PMID: 7473658 PMCID: PMC1051641 DOI: 10.1136/jmg.32.8.638
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318