Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment
L Burroughs, A Woolfrey, A Shimamura - Hematology/oncology clinics of …, 2009 - Elsevier
Shwachman-Diamond syndrome is a rare autosomal-recessive, multisystem disease
characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia
predisposition. Other clinical features include skeletal, immunologic, hepatic, and cardiac
disorders. This article focuses on the clinical presentation, diagnostic work-up, clinical
management, and treatment of patients with Shwachman-Diamond syndrome.
characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia
predisposition. Other clinical features include skeletal, immunologic, hepatic, and cardiac
disorders. This article focuses on the clinical presentation, diagnostic work-up, clinical
management, and treatment of patients with Shwachman-Diamond syndrome.