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无脑回畸形相关综合征。I:米勒-迪克综合征、诺曼-罗伯茨综合征及孤立性无脑回畸形

Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.

作者信息

Dobyns W B, Stratton R F, Greenberg F

出版信息

Am J Med Genet. 1984 Jul;18(3):509-26. doi: 10.1002/ajmg.1320180320.

Abstract

Lissencephaly (smooth-brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least 2, and possibly more, distinct pathological types occur, each associated with several distinct syndromes. In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the Miller-Dieker syndrome with or without deficiency of 17p13, Norman-Roberts syndrome, and isolated lissencephaly sequence.

摘要

无脑回畸形(平滑脑)是一种脑发育异常,其特征为神经元迁移不完全以及脑表面平滑。至少存在2种,也可能更多不同的病理类型,每种类型都与几种不同的综合征相关。本文讨论了与I型(经典型)无脑回畸形相关的3种疾病的表现,包括伴有或不伴有17p13缺失的米勒 - 迪克尔综合征、诺曼 - 罗伯茨综合征以及孤立性无脑回序列征。

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