Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome

被引：30
|
作者：
Marino, T
Wheeler, PG
Simpson, LL
Craigo, SD
Bianchi, DW
机构：
[1] Tufts Univ New England Med Ctr, Dept Pediat, Div Maternal Fetal Med, Boston, MA 02111 USA
[2] Tufts Univ, Sch Med, Boston, MA 02111 USA
[3] Tufts Univ New England Med Ctr, Dept Pediat, Div Genet, Boston, MA 02111 USA
[4] Columbia Univ, Coll Phys & Surg, Div Maternal Fetal Med, New York Presbyterian Hosp, New York, NY USA
来源：
PRENATAL DIAGNOSIS | 2002年 / 22卷 / 02期
关键词：
Brachmann-de Lange syndrome; prenatal ultrasonography; diaphragmatic hernia; syndactyly; oligodactyly; ulnar hypoplasia;
D O I：
10.1002/pd.281
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We describe two independent cases of Brachmann-de Lange syndrome (BDLS) in which second trimester fetal sonographic Studies showed the presence of a diaphragmatic hernia and upper limb anomalies. In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third trimester. Postnatal and postmortem physical examinations demonstrated typical physical findings associated with BDLS. The prenatal diagnosis of diaphragmatic hernia with associated anomalies should prompt consideration of an underlying genetic etiology. Copyright (C) 2002 John Wiley Sons, Ltd.
引用
收藏
页码：144 / 147
页数：4
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