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KMID : 0367420040470080900
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Journal of Korean Pediatric Society
2004 Volume.47 No. 8 p.900 ~ p.903
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A Case of Shwachman-Diamond Syndrome.
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Kwak Jeong-Won
Kim Suck
Lim Young-Tak
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Abstract
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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 and a high risk of development of leukemia. We report a case of SD syndrome in a 10-year-old boy who presented with failure to thrive and myelodysplastic syndrome. (Korean J Pediatr 2004;47:900-903)
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KEYWORD
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Shwachman-Diamond syndrome, Bone marrow disease
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