title: Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia.
abstract: Arteriohepatic dysplasia (AHD, Alagille's syndrome) is presumed to be one of the six known familial intrahepatic cholestatic syndromes, all of which present with neonatal jaundice or failure to thrive, or both. Accurate early diagnosis of the proper syndrome is important, as arteriohepatic dysplasia has a good prognosis, whereas the other syndromes usually lead to death in infancy or early adulthood. Posterior embryotoxon was found in all five of our patients and may be one of the hallmarks of this syndrome. Axenfeld's anomaly was present in three of five patients, and retinal pigmentary abnormalities were found in four of five patients. Variable abnormalities were found in the cardiovascular system, bones, central nervous system, kidneys, endocrine system, and body habitus. Inheritance may be autosomal dominant as vertical transmission was documented in one family. Liver function improves during the first five years of life so that only the ocular and skeletal signs may be present in adults.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001653:Bile Ducts, Intrahepatic / Q000002:abnormalities*; D002675:Child, Preschool; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis / Q000235:genetics*; D003318:Corneal Opacity / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008297:Male; D010857:Pigment Epithelium of Eye / Q000002:abnormalities*; D013577:Syndrome