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

被引：37

作者：

KAJTAR, P

MEHES, K

机构：

[1] Department of Pediatrics, University Medical School, H-7623 Pecs

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 49卷 / 04期

关键词：

COATS RETINOPATHY; APLASTIC ANEMIA; DYSKERATOSIS CONGENITA; CHROMOSOME INSTABILITY; REVESZ SYNDROME; TOLMIE SYNDROME;

D O I：

10.1002/ajmg.1320490404

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A a-year-old girl presented with thrombocytopenic purpura. Clinical examination and follow-up documented severe bone marrow hypoplasia associated with bilateral progressive Coats retinopathy, nail dystrophy, fine hair, and apparent chromosome instability. The syndrome is regarded as a variant of the Revesz syndrome sharing some findings of dyskeratosis congenita. (C) 1994 Wiley-Liss, Inc.

引用

页码：374 / 377

页数：4

共 10 条

[1]

BUHLER EM, 1987, ANN GENET-PARIS, V30, P75

[2]

Coats G., 1908, R LOND OPHTHALMOL HO, V17, P440

[3] DYSKERATOSIS CONGENITA [J].