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Shwachman-diamond syndrome: Are we missing many?

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Abstract

Shwachman-Diamond Syndrome (SDS) is a rare inherited disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. It is the most common cause of pancreatic insufficiency in children after cystic fibrosis. We report a child with classical SDS who presented to us predominantly with chronic diarrhea along with delayed growth and neutropenia.

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Correspondence to Ujjal Poddar.

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Kathuria, R., Poddar, U. & Yachha, S.K. Shwachman-diamond syndrome: Are we missing many?. Indian Pediatr 49, 748–749 (2012). https://doi.org/10.1007/s13312-012-0138-x

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  • DOI: https://doi.org/10.1007/s13312-012-0138-x

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