Hepatic dysfunction in association with pancreatic insufficiency and cyclical neutropenia. Shwachman-Diamond syndrome.
A patient with pancreatic insufficiency and cyclical neutropenia is described who also has evidence of hepatic dysfunction. He and 3 other patients whose findings are given emphasize the wide range of abnormalities seen in this syndrome.
D000293:Adolescent; D000380:Agranulocytosis / Q000150:complications*; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D008107:Liver Diseases / Q000150:complications*; D008297:Male; D009503:Neutropenia / Q000150:complications*; D010182:Pancreatic Diseases / Q000150:complications*; D013577:Syndrome