A case of Baraitser-Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia

被引：9

作者：

Shiihara, Takashi ^{[1
,2
]}

Maruyama, Ken-ichi ^{[3
]}

Yamada, Yoshiyuki ^{[4
]}

Nishimura, Akira ^{[5
]}

Matsumoto, Naomichi ^{[5
]}

Kato, Mitsuhiro ^{[6
]}

Sakazume, Satoru ^{[7
]}

机构：

[1] Gunma Childrens Med Ctr, Dept Neurol, Gunma 3778577, Japan

[2] Dokkyo Med Univ, Koshigaya Hosp, Dept Pediat, Koshigaya, Saitama 3438555, Japan

[3] Gunma Childrens Med Ctr, Dept Neonatol, Gunma 3778577, Japan

[4] Gunma Childrens Med Ctr, Dept Allergy & Immunol, Gunma 3778577, Japan

[5] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan

[6] Yamagata Univ, Sch Med, Dept Pediat, Yamagata 9909585, Japan

[7] Gunma Childrens Med Ctr, Dept Med Genet, Gunma 3778577, Japan

来源：

BRAIN & DEVELOPMENT | 2010年 / 32卷 / 06期

关键词：

Baraitser-Winter syndrome; Pachygyria; Subcortical-band heterotopia; Periventricular heterotopia; MENTAL-RETARDATION; IRIS COLOBOMA; PTOSIS; HYPERTELORISM; MALFORMATIONS;

D O I：

10.1016/j.braindev.2009.04.015

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements. (C) 2009 Elsevier B.V. All rights reserved.

引用

页码：502 / 505

页数：4

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