Document Detail


Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia.
MedLine Citation:
PMID:  18322927     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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).
Authors:
L Vandy Black; Thomas Soltau; David R Kelly; Roger L Berkow
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric blood & cancer     Volume:  51     ISSN:  1545-5017     ISO Abbreviation:  Pediatr Blood Cancer     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-05-13     Completed Date:  2008-07-31     Revised Date:  2009-01-12    
Medline Journal Info:
Nlm Unique ID:  101186624     Medline TA:  Pediatr Blood Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  123-4     Citation Subset:  IM    
Copyright Information:
(c) 2008 Wiley-Liss, Inc.
Affiliation:
Department of Pediatrics, Division of Pediatric Hematology-Oncology, University of Alabama at Birmingham, Birmingham, Alabama, USA. vblack@peds.uab.edu
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MeSH Terms
Descriptor/Qualifier:
Bone Marrow Diseases / 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:
143011-72-7/Granulocyte Colony-Stimulating Factor

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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