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Shwachman-diamond syndrome: Are we missing many?

Indian Pediatrics volume 49, pages 748–749 (2012)Cite this article

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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Affiliations

  1. Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

    Rachana Kathuria, Ujjal Poddar & Surender Kumar Yachha

  2. Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226 014, Uttar Pradesh, India

    Ujjal Poddar

Authors
  1. Rachana Kathuria
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  2. Ujjal Poddar
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  3. Surender Kumar Yachha
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Corresponding author

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

Key words

  • Lipomatosis
  • Pancreatic insufficiency
  • Shwachman syndrome