Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
复制标题
巴雷策-温特综合征脑畸形的特征和文献综述。
DOI：
10.1055/s-2003-44666
复制
发表时间：
2003
期刊：
影响因子：
1.4
通讯作者：
R. Winter
中科院分区：
文献类型：
--
作者：
M. Rossi;R. Guerrini;W. Dobyns;G. Andria;R. Winter
Baraitser-温特综合征是一种罕见的常染色体隐性遗传病，以发育迟缓、畸形和多发性畸形为特征，也累及大脑。我们报告了另一个病例，并提供了Baraitser和温特最初报告的一名无血缘关系女孩的最新信息。两人均表现为大脑回，后者最近在高分辨率脑MRI成像中被发现有皮质下带状异位。这两位患者和对以前报道的病例的回顾表明，一种特殊的脑异常模式落在无融合-粗脑回频段与这种畸形综合征有关，这可能被认为是综合征性神经元迁移缺陷的另一例。
Baraitser-Winter syndrome is a rare autosomal recessive disorder characterized by developmental delay, dysmorphic features, and multiple malformations also involving the brain. We report a further case and provide updated information about an unrelated girl reported in the original paper by Baraitser and Winter. Both of them presented with pachygyria and the latter case was recently found to have subcortical band heterotopia on high resolution brain MRI imaging. These two patients and a review of the previously reported cases indicate that a specific pattern of brain anomalies falling in the agyria-pachygyria-band spectrum is associated with this dysmorphic syndrome, which may be considered another example of syndromic neuronal migration defect.