Arteriohepatic dysplasia: phenotypic features and family studies

Abstract

Arteriohepatic dysplasia (AHD) is a disorder characterized by intrahepatic cholestasis and peripheral pulmonary artery stenosis. The phenotypic features were reviewed in the 56 previously reported cases and 7 persons from institutions with AHD to summarize the type of cardiac, hepatic, facial, ocular and skeletal manifestations observed in this disorder. Family studies evaluating 1st-degree relatives patients with AHD are compatible with an autosomal dominant mode of inheritance with reduced penetrance and variable expressivity.