Affordable Access

Access to the full text

Prenatal Diagnosis of a Lethal Multiple Pterygium Syndrome Type II

Authors
  • Entezami, Michael
  • Runkel, Sanyukta
  • Kunze, Juergen
  • Weitzel, Hans Karl
  • Becker, Rolf
Type
Published Article
Journal
Fetal Diagnosis and Therapy
Publisher
S. Karger AG
Publication Date
Feb 01, 1998
Volume
13
Issue
1
Pages
35–38
Identifiers
DOI: 10.1159/000020798
Source
Karger
Keywords
License
Green
External links

Abstract

Advances in ultrasound technology and sonographer’s experience lead to the description of many rare syndromes and malformations through prenatal diagnosis. Diaphragmatic hernia is a rather common malformation but can be an indicator of different syndromes. We report the prenatal diagnosis of lethal multiple pterygium syndrome type II which has been established in the 34th week of pregnancy. The sonographically detectable symptoms consisted of polyhydramnios, hygroma colli, diaphragmatic hernia, scoliosis, short forearms, hypokinesia of the fetus and pterygia over the large joints. Labour was induced in the 34th week of pregnancy; the neonate died shortly after vaginal delivery as a result of the pulmonary hypoplasia. A multidisciplinary approach in prenatal assessment may help to clarify difficult diagnostic problems and may be of direct benefit for the pregnant patient.

Report this publication

Statistics

Seen <100 times