Key result
First report links pulmonary valvular stenosis with MRKH syndrome in two siblings.
Case Report (n=2)
This report identifies a novel association between Mayer-Rokitansky-Küster-Hauser syndrome and pulmonary valvular stenosis, suggesting a potential genetic or familial link.
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.
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Kula et al. (2004) conducted a case report in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome associated with pulmonary valvular stenosis (n=2). This is the first report describing the combination of a cardiac anomaly (pulmonary valvular stenosis) with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in two siblings.
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