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Arteriohepatic dysplasia: phenotypic features and family studies

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.