Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia

L. Vandy Black, Thomas Soltau, David R. Kelly, Roger L. Berkow

Research output: Contribution to journalArticle

Abstract

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).

Original languageEnglish (US)
Pages (from-to)123-124
Number of pages2
JournalPediatric Blood and Cancer
Volume51
Issue number1
DOIs
StatePublished - Jul 2008

Keywords

  • Bone marrow failure syndromes
  • Congenital neutropenia
  • Premature infants
  • Shwachman-Diamond

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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