ANONYCHIA AND ABSENCE HYPOPLASIA OF DISTAL PHALANGES (COOKS-SYNDROME)- REPORT OF A 2ND FAMILY

Citation
Nc. Nevin et al., ANONYCHIA AND ABSENCE HYPOPLASIA OF DISTAL PHALANGES (COOKS-SYNDROME)- REPORT OF A 2ND FAMILY, Journal of Medical Genetics, 32(8), 1995, pp. 638-641
Citations number
13
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
32
Issue
8
Year of publication
1995
Pages
638 - 641
Database
ISI
SICI code
0022-2593(1995)32:8<638:AAAHOD>2.0.ZU;2-H
Abstract
We describe a second family with four affected members in three succes sive generations with a rare nail dysplasia syndrome. The syndrome, wh ich was first reported by Cooks et al in 1985, is characterised by bil ateral 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, the re is absence/hypoplasia of the distal phalanges of the hands and feet . Our family confirms this syndrome as a distinct entity with autosoma l dominant inheritance.