致死性多发性翼状胬肉综合征：产前超声及尸检结果；病例报告

The lethal multiple pterygium syndrome: prenatal ultrasonographic and postmortem findings; a case report.

作者信息

de Die-Smulders C E, Vonsée H J, Zandvoort J A, Fryns J P

机构信息

Department of Clinical Genetics, University Hospital of Maastricht, State University of Limburg, The Netherlands.

出版信息

Eur J Obstet Gynecol Reprod Biol. 1990 May-Jun;35(2-3):283-9. doi: 10.1016/0028-2243(90)90175-z.

DOI:10.1016/0028-2243(90)90175-z

PMID:2185959

Abstract

In this report we present the prenatal ultrasonic and postmortem data of a male fetus of 25 weeks' gestational age with a lethal multiple pterygium syndrome. The importance of precise etiologic diagnosis in a midtrimester fetus with generalized edema and nuchal hygroma is emphasized.

摘要

在本报告中，我们呈现了一名孕25周男性胎儿的产前超声和尸检数据，该胎儿患有致死性多发性翼状胬肉综合征。强调了对患有全身性水肿和颈部水囊瘤的孕中期胎儿进行精确病因诊断的重要性。