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家族性先天性白内障、非进行性神经疾病和智力缺陷:一种新的X连锁综合征?

Familial congenital cataract, non-progressive neurological disorders and mental deficiency: a new X-linked syndrome?

作者信息

Pfeiffer R A, Steffann J

出版信息

Ophthalmic Paediatr Genet. 1985 Apr;5(3):201-3. doi: 10.3109/13816818509006135.

Abstract

The association of congenital cataracts, non-progressive spastic paresis and severe mental deficiency in male cousins, whose mothers are similarly though less affected, is reported. In the literature a few observations give rise to comparison, but to the best of our knowledge, an identical case has not been published.

摘要

据报道,在男性堂兄弟中出现先天性白内障、非进行性痉挛性轻瘫和严重智力缺陷的关联,其母亲也有类似症状,但程度较轻。文献中有一些观察结果可供比较,但据我们所知,尚未发表过相同病例。

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