[Hallgren's syndrome in one family: retinitis pigmentosa, congenital deafness and ataxia].

Acta neurologica latinoamericana Pub Date : 1979-01-01
G A Urquidi, A M Topaz
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Abstract

A family of 6 siblings, 4 of which have Hallgren's syndrome, i.e., retinitis pigmentosa, congenital deafness and ataxia is described. Hallgren's series in Sweden is referred to. This affection was ascribed by Hallgren to a single gene with almost complete penetrance. However, 3 brothers of the present series show neurological anomalies not present in the Swedish cases.

[一个家族的哈尔格伦综合征:视网膜色素变性、先天性耳聋和共济失调]。
本文描述了一个6人的家庭,其中4人患有哈尔格伦综合征,即视网膜色素变性、先天性耳聋和共济失调。参考瑞典的Hallgren系列。哈尔格伦把这种感情归因于一个几乎完全外显的基因。然而,本系列的3个兄弟表现出瑞典病例中不存在的神经异常。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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