Clinical and Experimental Pediatrics

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Suk Kim (Kim S)

1 Article

Case Report

A Case of Shwachman-Diamond Syndrome

Jeong Won Kwak, Suk Kim, Young Tak Lim

Clin Exp Pediatr. 2004;47(8):900-903. Published online August 15, 2004

Shwachman-Diamond syndrome(SD syndrome) is a rare genetic disorder chracterized by pancreatic insufficiency, short stature, skeletal abnormalities and bone marrow dysfunction. Exocrine pancreatic insufficiency and neutropenia are the main components of the syndrome. A hallmark of SD syndrome is varying severity of pancreatic dysfunction due to acinar maldevelopment. The hematologic abnormalities associated with SD syndrome include varying cytopenias, marrow aplasia, myelodysplasia...

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