Revesz syndrome

被引:10
作者
Riyaz, A. [1 ,2 ]
Riyaz, Najeeba [3 ]
Jayakrishnan, M. P. [1 ,2 ]
Shiras, P. T. Mohamed [1 ,2 ]
Kumar, V. T. Ajith [1 ,2 ]
Ajith, Bindu S. [4 ]
机构
[1] Coll Med, Dept Pediat, Calicut, Kerala, India
[2] Coll Med, Dept Pediat Gastroenterol, Calicut, Kerala, India
[3] Coll Med, Dept Dermatol, Calicut, Kerala, India
[4] Comtrust Eye Hosp, Calicut, Kerala, India
关键词
Revesz syndrome; retinitis pigmentosa; retinal detachment; bone marrow failure syndromes;
D O I
10.1007/s12098-007-0155-2
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
A 5-year-old girl was admitted with pallor, hypopigmented sparse hair, tongue ulcers, atrophic nail changes, hypoplastic anemia and bilateral exudative retinopathy. A diagnosis of Revesz syndrome was made. She had the additional features of retinal detachment and retinitis pigmentosa, which are hitherto unreported in this syndrome.
引用
收藏
页码:862 / 863
页数:2
相关论文
共 3 条
[1]   Bone marrow failure syndromes in children [J].
Alter, BP .
PEDIATRIC CLINICS OF NORTH AMERICA, 2002, 49 (05) :973-+
[2]   BILATERAL COATS RETINOPATHY ASSOCIATED WITH APLASTIC-ANEMIA AND MILD DYSKERATOTIC SIGNS [J].
KAJTAR, P ;
MEHES, K .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 49 (04) :374-377
[3]   BILATERAL RETINOPATHY, APLASTIC-ANEMIA, AND CENTRAL-NERVOUS-SYSTEM ABNORMALITIES - A NEW SYNDROME [J].
REVESZ, T ;
FLETCHER, S ;
ALGAZALI, LI ;
DEBUSE, P .
JOURNAL OF MEDICAL GENETICS, 1992, 29 (09) :673-675