Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.
Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.
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DOI：
10.1136/jmg.28.12.884
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发表时间：
1991-12
影响因子：
4
通讯作者：
J. H. Begeer;F. Scholte;A. J. V. Essen;Begeer Mariencamp
中科院分区：
文献类型：
--
作者：
J. H. Begeer;F. Scholte;A. J. V. Essen;Begeer Mariencamp
两姐妹篇被描述为精神发育迟滞，先天性白内障，进行性脊髓小脑共济失调，感觉神经性耳聋，周围神经病变的迹象为特征的疾病。进行性听力损失、共济失调和多发性神经病在第三个十年变得明显。讨论了这种综合征的鉴别诊断，包括Berman等人和Koletzko等人描述的综合征。
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.