两姐妹患有智力障碍、白内障、共济失调、进行性听力丧失和多发性神经病变。
Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.
作者信息
Begeer J H, Scholte F A, van Essen A J
机构信息
Department of Child Neurology, University Hospital, Groningen, The Netherlands.
出版信息
J Med Genet. 1991 Dec;28(12):884-5. doi: 10.1136/jmg.28.12.884.
Abstract
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.
摘要
本文描述了两姐妹患有一种疾病，其特征为智力发育迟缓、先天性白内障、进行性脊髓小脑共济失调、感音神经性耳聋以及周围神经病变体征。进行性听力丧失、共济失调和多发性神经病在第三个十年变得明显。本文讨论了该综合征的鉴别诊断，包括Berman等人和Koletzko等人描述的综合征。
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A neuroectodermal syndrome of dominant inheritance.一种显性遗传的神经外胚层综合征。
J Neurol Sci. 1965 Mar-Apr;2(2):161-82. doi: 10.1016/0022-510x(65)90078-x.
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Cataract, deafness, cerebellar ataxia, psychosis and dementia--a new syndrome.白内障、耳聋、小脑共济失调、精神病和痴呆——一种新综合征。
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A new familial syndrome with ataxia, hearing loss, and mental retardation. Report of three brothers.
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Ataxia-deafness-retardation syndrome in three sisters.
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