Arteriohepatic dysplasia: radiologic features of a new syndrome

The radiographic features of five patients with arteriohepatic dysplasia are presented. These patients had congenital intrahepatic cholestasis with elevated serum bile acids, vertebral body abnormalities of shape and/or segmentation, shortened digits, and congenital heart disease, particularly peripheral pulmonic stenosis. They also had dysmorphic facies, eye abnormalities, hypercholesterolemia, and mild fat malabsorption. Some of the patients had neurologic, endocrine, and/or renal abnormalities as well, and they may have had hoarse voices due to vocal cord nodules. Variability in expression of the syndrome and vertical transmission suggest an autosomal dominant pattern of inheritance.