| Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia. | |
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MedLine Citation:
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PMID: 18322927 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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). |
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Authors:
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L Vandy Black; Thomas Soltau; David R Kelly; Roger L Berkow |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric blood & cancer Volume: 51 ISSN: 1545-5017 ISO Abbreviation: Pediatr Blood Cancer Publication Date: 2008 Jul |
Date Detail:
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Created Date: 2008-05-13 Completed Date: 2008-07-31 Revised Date: 2009-01-12 |
Medline Journal Info:
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Nlm Unique ID: 101186624 Medline TA: Pediatr Blood Cancer Country: United States |
Other Details:
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Languages: eng Pagination: 123-4 Citation Subset: IM |
Copyright Information:
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(c) 2008 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatrics, Division of Pediatric Hematology-Oncology, University of Alabama at Birmingham, Birmingham, Alabama, USA. vblack@peds.uab.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Bone Marrow Diseases
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diagnosis*,
drug therapy Fatal Outcome Female Granulocyte Colony-Stimulating Factor / therapeutic use Homozygote Humans Infant, Newborn Infant, Premature Mutation Pancytopenia / etiology* Syndrome |
| Chemical | |
Reg. No./Substance:
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143011-72-7/Granulocyte Colony-Stimulating Factor |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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