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同胞中出现的伴有原发性性腺功能减退和脱发的进行性锥体外系疾病：一种新综合征？

Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?

作者信息

Devriendt K, Legius E, Fryns J P

机构信息

Center for Human Genetics, University of Leuven, Belgium.

出版信息

Am J Med Genet. 1996 Mar 1;62(1):54-7. doi: 10.1002/(SICI)1096-8628(19960301)62:1<54::AID-AJMG11>3.0.CO;2-U.

DOI:10.1002/(SICI)1096-8628(19960301)62:1<54::AID-AJMG11>3.0.CO;2-U
PMID:8779325
Abstract

We report on 2 sibs with consanguineous parents, and an identical progressive extrapyramidal movement disorder with onset in adolescence and associated with progressive alopecia and primary hypogonadism. To our knowledge, this syndrome has not been reported, and probably represents a newly recognized autosomal recessive condition.

摘要

我们报告了一对父母为近亲的同胞，他们患有相同的进行性锥体外系运动障碍，发病于青春期，并伴有进行性脱发和原发性性腺功能减退。据我们所知，这种综合征尚未见报道，可能代表一种新发现的常染色体隐性疾病。

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