Shwachman-diamond syndrome: Are we missing many?

Rachana Kathuria, Ujjal Poddar, Surender Kumar Yachha
2012 Indian Pediatrics  
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.
doi:10.1007/s13312-012-0138-x pmid:23024080 fatcat:5stkep56njajpi2mis4b32c6zi