Which pediatric genetic condition is most likely when a newborn has exocrine pancreatic insufficiency plus bone marrow dysfunction and short stature (but not classic CF)?
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Correct answer: Shwachman–Diamond syndrome
Shwachman–Diamond syndrome is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow failure or cytopenias, growth retardation, and skeletal abnormalities, distinguishing it from CF.
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