title: 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.
authors.affiliation: Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
authors.forename: Rachana
authors.initials: R
authors.lastname: Kathuria
authors.forename: Ujjal
authors.initials: U
authors.lastname: Poddar
authors.forename: Surender Kumar
authors.initials: SK
authors.lastname: Yachha
mesh_terms: D001855:Bone Marrow Diseases / Q000175:diagnosis*; D002648:Child; D003967:Diarrhea / Q000175:diagnosis; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis*; D006801:Humans; D007194:India; D008068:Lipomatosis / Q000175:diagnosis*; D008297:Male; D000081003:Shwachman-Diamond Syndrome