BECKWITH-WIEDEMANN SYNDROME - DIFFICULTIES WITH PRENATAL-DIAGNOSIS

被引：12

作者：

NOWOTNY, T

BOLLMANN, R

PFEIFER, L

WINDT, E

机构：

[1] Institute of Medical Genetics, Perinatal Medicine Working Group, Berlin

来源：

FETAL DIAGNOSIS AND THERAPY | 1994年 / 9卷 / 04期

关键词：

BECKWITH-WIEDEMANN SYNDROME; HYDRONEPHROSIS; PRENATAL DIAGNOSIS; ULTRASOUND; ZELLWEGERS SYNDROME;

D O I：

10.1159/000263943

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Beckwith-Wiedemann syndrome (BWS), though a well-delineated clinical and morphological entity, can be difficult to diagnose by prenatal ultrasound examination when incomplete forms occur. We present a case with sonographic results including hydronephrosis, cardiomegalia, hepatomegalia, macroglossia, and prominent forehead. No abdominal wall defect was detected. Karyotype was normal. In spite of intensive prenatal diagnostics, BWS could not be diagnosed definitely until birth.

引用

页码：256 / 260

页数：5

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