X-linked female band heterotopia-male lissencephaly syndrome

被引:41
作者
Berg, MJ
Schifitto, G
Powers, JM
Martinez-Capolino, C
Fong, CT
Myers, GJ
Epstein, LG
Walsh, CA
机构
[1] Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA
[2] Univ Rochester, Med Ctr, Dept Pathol, Rochester, NY 14642 USA
[3] Harvard Univ, Beth Israel Hosp, Sch Med, Dept Neurol, Boston, MA 02215 USA
关键词
D O I
10.1212/WNL.50.4.1143
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report a family with band heterotopia in a mother and daughter and lissencephaly in a son (X-linked inheritance pattern). Postmortem examination of the boy revealed classical lissencephaly and, among other findings, simplified and discontinuous inferior olives without inferior olivary heterotopia. The absence of inferior olivary heterotopia may distinguish X-linked lissencephaly from other conditions with classic lissencephaly such as Miller-Dieker syndrome.
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页码:1143 / 1146
页数:4
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