Mayer-Rokitansky-Küster-Hauser syndrome associated with pulmonary stenosis.
Two siblings with Mayer-Rokitansky-Küster-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.
Kula
S
S
Gazi University Medical School, Department of Paediatric Cardiology, Ankara, Turkey. kula@gazi.edu.tr
Saygili
A
A
Tunaoğlu
F S
FS
Olguntürk
R
R
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D013577:Syndrome; D014463:Ultrasonography; D014564:Urogenital Abnormalities / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*