title: Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations.
abstract: Peripheral pulmonary stenosis with or without intracardiac disease is described in 14 patients with intrahepatic biliary dysgenesis. Cardiovascular malformations were not present among a large group of patients with extrahepatic biliary dysgenesis. This association of intrahepatic biliary dysgenesis and vascular malformations is postulated to be a specific malformation syndrome resulting most probably from intrauterine infection. The cardiovascular disease is usually mild. The liver dysfunction varies in severity, and is accompanied by a notable hyperlipoproteinemia with secondary xanthomata which can be ameliorated by long-term treatment with cholestyramine resin and/or vegetable oil supplements.
mesh_terms: D002675:Child, Preschool; D002792:Cholestyramine Resin / Q000627:therapeutic use; D004041:Dietary Fats; D006801:Humans; D006949:Hyperlipidemias / Q000178:diet therapy; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000002:abnormalities*; D008107:Liver Diseases / Q000151:congenital* / Q000209:etiology; D011666:Pulmonary Valve Stenosis / Q000151:congenital* / Q000209:etiology; D012409:Rubella / Q000150:complications*; D013577:Syndrome; D014973:Xanthomatosis / Q000178:diet therapy
chemical_list: D004041:Dietary Fats; D002792:Cholestyramine Resin