Arteriohepatic dysplasia: association of liver disease with pulmonary arterial stenosis as well as facial and skeletal abnormalities.

The clinical features and course of five children with the recently described syndrome of arteriohepatic dysplasia are presented. All had bilateral pulmonary arterial stenosis, proven at cardiac catheterization, as well as associated liver disease of varying severity. In one of the fatal cases, a hitherto undescribed anomaly was found--stenosis of the right coronary artery ostium. A viral etiology, eg, the congenital rubella syndrome, was considered most likely, but detailed investigations proved to be negative.