Article
Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia.
Pediatric blood & cancer - 1 Jul 2008
Black L Vandy, Soltau Thomas, Kelly David R, Berkow Roger L
Abstract excerpt
Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We report a premature infant born at 33 weeks gestation who was small for gestational age and displayed persistent cytopenias...
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