I have this in full-text PDF.
Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia.
Black LV, Soltau T, Kelly DR, Berkow RL.
Department of Pediatrics, Division of Pediatric Hematology‐Oncology, University of Alabama at Birmingham, Birmingham, Alabama.
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). Pediatr Blood Cancer (c) 2008 Wiley-Liss, Inc.
PMID: 18322927 [PubMed - as supplied by publisher]
