Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2

被引：9
|
作者：
Kalache, KD
Lehmann, K
Chaoui, R
Kivelitz, DE
Mundlos, S
Bollmann, R
机构：
[1] Humboldt Univ, Fac Med, Univ Hosp, Dept Radiol, Berlin, Germany
[2] Humboldt Univ, Fac Med, Dept Med Genet, Berlin, Germany
[3] Humboldt Univ, Fac Med, Dept Obstet & Gynaecol, Fetal Med Unit, Berlin, Germany
来源：
PRENATAL DIAGNOSIS | 2002年 / 22卷 / 05期
关键词：
thanatophoric dysplasia type 2; corpus callosum abnormalities; ultrasonography; magnetic resonance imaging;
D O I：
10.1002/pd.327
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A fetus with thanatophoric dysplasia type 2 (TD2) associated with cloverleaf skull and abnormal development of the corpus callosum is reported. This case represent,, the first prenatal direct visualization a partial agenesis of the corpus callosum (ACC) using high-resolution ultrasonography and colour power Doppler. which was confirmed by post-mortem magnetic resonance imaging (MRI). The causal link between cloverleaf skull in TD and partial ACC is discussed. Copyright (C) 2002 John Wiley Sons. Ltd.
引用
收藏
页码：404 / 407
页数：4
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