Shwachman-Diamond Syndrome: are we missing many?

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.

journal_name

Indian Pediatr

journal_title

Indian pediatrics

authors

Kathuria R,Poddar U,Yachha SK

doi

10.1007/s13312-012-0138-x

subject

Has Abstract

pub_date

2012-09-01 00:00:00

pages

748-9

issue

9

eissn

0019-6061

issn

0974-7559

journal_volume

49

pub_type

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