Close
Close

Pagon Stephan syndrome

Arteriohepatic dysplasia: phenotypic features and family studies.
Related Articles

Arteriohepatic dysplasia: phenotypic features and family studies.

Clin Genet. 1984 Apr;25(4):323-31

Authors: Mueller RF, Pagon RA, Pepin MG, Haas JE, Kawabori I, Stevenson JG, Stephan MJ, Blumhagen JD, Christie DL

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.

PMID: 6424981 [PubMed - indexed for MEDLINE]

Latest Research