학술논문
Prenatal suspicion of Noonan syndrome on the basis of echocardiographic findings - a case report
Document Type
Article
Author
Source
Prenatal Cardiology : Kardiologia Prenatalina; June 2013, Vol. 3 Issue: 2 p26-30, 5p
Subject
Language
ISSN
23538198; 23538201
Abstract
Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. It is mainly characterized by congenital heart defects, short stature, and a variable degree of developmental delay. Its symptoms can be observed during fetal life, but most of them are not specific for Noonan syndrome. Cardiac symptoms such as pulmonary stenosis or hypertrophic cardiomyopathy seems to be the most specific. We present a case of Noonan syndrome monitored during fetal live using prenatal echocardiography with a brief review of the literature.