BILATERAL COATS RETINOPATHY ASSOCIATED WITH APLASTIC-ANEMIA AND MILD DYSKERATOTIC SIGNS

Authors
KAJTAR P MEHES K
Citation
P. Kajtar et K. Mehes, BILATERAL COATS RETINOPATHY ASSOCIATED WITH APLASTIC-ANEMIA AND MILD DYSKERATOTIC SIGNS, American journal of medical genetics, 49(4), 1994, pp. 374-377
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
49
Issue
4
Year of publication
1994
Pages
374 - 377
Database
ISI
SICI code
0148-7299(1994)49:4<374:BCRAWA>2.0.ZU;2-3
Abstract
A a-year-old girl presented with thrombocytopenic purpura. Clinical ex amination and follow-up documented severe bone marrow hypoplasia assoc iated with bilateral progressive Coats retinopathy, nail dystrophy, fi ne hair, and apparent chromosome instability. The syndrome is regarded as a variant of the Revesz syndrome sharing some findings of dyskerat osis congenita. (C) 1994 Wiley-Liss, Inc.