SYNDROMES WITH LISSENCEPHALY .1. MILLER-DIEKER AND NORMAN-ROBERTS SYNDROMES AND ISOLATED LISSENCEPHALY
SYNDROMES WITH LISSENCEPHALY .1. MILLER-DIEKER AND NORMAN-ROBERTS SYNDROMES AND ISOLATED LISSENCEPHALY
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DOI：
10.1002/ajmg.1320180320
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发表时间：
1984-01-01
期刊：
影响因子：
--
通讯作者：
GREENBERG, F
中科院分区：
文献类型：
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作者：
DOBYNS, WB;STRATTON, RF;GREENBERG, F
无脑畸形（光滑脑）是一种脑发育异常，其特征是神经元迁移不完全和大脑表面光滑。至少有2种，可能更多，不同的病理类型发生，每一个与几个不同的综合征。与I型（经典）无脑回畸形相关的3种疾病的表现进行了讨论，包括米勒-迪克尔综合征与或不缺乏17 p13，诺曼-罗伯茨综合征，孤立无脑回序列。
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. 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.