沃克-沃伯格综合征胎儿孕中期胎儿白内障的诊断

Second-trimester diagnosis of fetal cataract in a fetus with Walker-Warburg syndrome.

作者信息

Beinder E J, Pfeiffer R A, Bornemann A, Wenkel H

机构信息

Department of Obstetrics and Gynecology, University Hospital of Erlangen, Germany.

出版信息

Fetal Diagn Ther. 1997 Jul-Aug;12(4):197-9. doi: 10.1159/000264467.

DOI:10.1159/000264467

PMID:9354876

Abstract

We report on the prenatal diagnosis of bilateral fetal cataract in the 17th week of pregnancy as the first ultrasonographic sign of a Walker-Warburg syndrome in a familial case. No other anomalies could be detected by ultrasonographic examination at that time. Both the bilateral fetal cataract and specific abnormalities of a Walker-Warburg syndrome were confirmed after the termination of the pregnancy in the second trimester.

摘要

我们报告了一例家族性病例，在妊娠第17周通过产前诊断发现双侧胎儿白内障，这是沃克-沃伯格综合征的首个超声检查迹象。当时超声检查未发现其他异常。孕中期终止妊娠后，证实了双侧胎儿白内障及沃克-沃伯格综合征的特定异常。