Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia

Academic Article


  • Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We report a premature infant born at 33 weeks gestation who was small for gestational age and displayed persistent cytopenias requiring transfusion. Genetic testing confirmed a diagnosis of Shwachman-Diamond syndrome (SDS). © 2008 Wiley-Liss, Inc.
  • Authors

    Published In

    Digital Object Identifier (doi)

    Pubmed Id

  • 18755999
  • Author List

  • Black LV; Soltau T; Kelly DR; Berkow RL
  • Start Page

  • 123
  • End Page

  • 124
  • Volume

  • 51
  • Issue

  • 1