Mayer-Rokitansky-Kuster-Hauser syndrome associated with pulmonary stenosis

Kula S., Saygili A., Tunaoglu F., Olgunturk R.

ACTA PAEDIATRICA, vol.93, no.4, pp.570-572, 2004 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 93 Issue: 4
  • Publication Date: 2004
  • Doi Number: 10.1080/08035250310023773
  • Journal Name: ACTA PAEDIATRICA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.570-572
  • Keywords: pulmonary stenosis, Mayer-Rokitansky-Kurster-Hauser, congenital heart
  • Gazi University Affiliated: Yes

Abstract

Two siblings with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome associated with pulmonary valvular stenosis are reported. Although the syndrome is well documented, the genetic background and familial occurrence is not known and the association with cardiac anomalies has not previously been reported. This report is the first report which describes the combination of cardiac anomaly with MRKH syndrome.