2 SISTERS WITH MENTAL-RETARDATION, CATARACT, ATAXIA, PROGRESSIVE HEARING-LOSS, AND POLYNEUROPATHY

被引：17

作者：

BEGEER, JH

SCHOLTE, FA

VANESSEN, AJ

机构：

[1] MARIENCAMP,INST MENTALLY RETARDED PEOPLE,POB 8,9450 AA ROLDE,NETHERLANDS

[2] UNIV GRONINGEN HOSP,DEPT CHILD NEUROL,9700 RB GRONINGEN,NETHERLANDS

[3] UNIV GRONINGEN,DEPT MED GENET,9713 AW GRONINGEN,NETHERLANDS

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 12期

关键词：

D O I：

10.1136/jmg.28.12.884

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et al and Koletzko et al.

引用

页码：884 / 885

页数：2

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