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进行性四肢瘫痪、智力发育迟缓、色素性视网膜炎和听力丧失:两例同胞报告。

Progressive quadriparesis, mental retardation, retinitis pigmentosa, and hearing loss: report of two sibs.

作者信息

Gordon A M, Capute A J, Konigsmark B W

出版信息

Johns Hopkins Med J. 1976 Apr;138(4):142-5.

PMID:1271602
Abstract

Three- and four-year-old brothers, ostensibly with a nonprogressive spastic quadriparesis, had retinitis pigmentosa and mental retardation. One had clinical deafness. The brothers showed little developmental progress in infancy and exhibited deterioration in childhood. Known metabolic and acquired causes were excluded. Although they have some features of several other syndromes,the condition reported here is unique.

摘要

一对三四岁的兄弟,表面上患有非进行性痉挛性四肢瘫痪,同时患有色素性视网膜炎和智力障碍。其中一人有临床耳聋症状。这对兄弟在婴儿期几乎没有发育进展,在儿童期出现了退化。排除了已知的代谢性和后天性病因。尽管他们具有其他几种综合征的一些特征,但此处报告的病症是独特的。

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