Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family. Issue 8 (August 1995)

• Record Type: Journal Article
• Authors: Nevin, N C; Thomas, P S; Eedy, D J; Shepherd, C
• Is Part Of: Journal of medical genetics. Volume 32:Issue 8(1995)
• Page Start: 638
• Page End: 641
• Publication Date: 1995-08
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.32.8.638
• Languages: English
• ISSNs: 1468-6244

Abstract

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.