Severe pulmonary arterial stenoses in Conradi-Hünermann disease.

A 5-month-old male infant with chondrodystrophia punctata type Conradi-Hünermann showed electrocardiographically an increasing right ventricular hypertrophy. Echocardiographically an enormous enlarged right ventricle with signs of supra-systemic pressure was found. No other intracardiac defects could be seen. Angiography showed severe peripheral pulmonary arterial stenoses of both main arteries. Balloon-dilatation or surgical intervention was supposed to have no beneficial effect. At the age of 6 months the patient died.