Arteriohepatic dysplasia: phenotypic features and family studies


Division of Medical Genetics Children's Orthopedic Hospital and Medical Center P.O. Box C-5371 Seattle, Washington 98105 USA


Arteriohepatic dysplasia (AHD) is a disorder characterized by intrahepatic cholestasis and peripheral pulmonary artery stenosis. We have reviewed the phenotypic features in the 56 previously reported cases and 7 persons from our institutions with AHD to summarize the type of cardiac, hepatic, facial, ocular and skeletal manifestations observed in this disorder. Family studies evaluating first-degree relatives of patients with AHD are compatible with an autosomal dominant mode of inheritance with reduced penetrance and variable expressivity.