Brachmann-de Lange syndrome: a cause of early symmetric fetal growth delay

被引:20
作者
Boog, G
Sagot, F
Winer, N
David, A
Nomballais, MF
机构
[1] CHU Nantes, Dept Obstet & Fetal Med, F-44093 Nantes 1, France
[2] CHU Nantes, Dept Human Genet, F-44093 Nantes, France
[3] CHU Nantes, Dept Fetopathol, F-44093 Nantes 1, France
来源
EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY | 1999年 / 85卷 / 02期
关键词
Brachmann-de Lange syndrome; fetal growth delay; prenatal diagnosis; sonography;
D O I
10.1016/S0301-2115(99)00021-4
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Brachmann-de Lange syndrome is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and limb anomalies and a typical face. A sonographic prenatal diagnosis at mid-trimester is reported in a case of severe, symmetrical fetal growth delay at 20 weeks gestation, with a thickened skin on the forehead, a small nose and a marked depressed nasal bridge, a long philtrum, micrognathia and a persistently flexed right forearm, with a single bone associated to oligodactyly. Due to the severe mental impairment with a commonly estimated intelligence quotient under 60, the pregnancy was terminated after parental consent. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.
引用
收藏
页码:173 / 177
页数:5
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