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A Case of a Young Girl with Myelodysplastic Syndrome (MDS), Dysmorphic Features, Short Stature, and Developmental Delay – Is there a Link? | OMICS International | Abstract
ISSN: 2165-7920

Journal of Clinical Case Reports
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Case Report

A Case of a Young Girl with Myelodysplastic Syndrome (MDS), Dysmorphic Features, Short Stature, and Developmental Delay – Is there a Link?

Torrey M Parker1,4, Mylene Bassal1,2,4, Robert Klaassen1,2,4, Sarah M Nikkel1,3,4, Michaela Cada1,2,4and Donna L Johnston1,2,4*
1Department of Pediatrics, Children’s Hospital of Eastern Ontario, Canada
2Division of Hematology Oncology, University of Ottawa, Ottawa, Ontario, Canada
3Department of Medical Genetics, University of Ottawa, Ottawa, Ontario, Canada
4University of Ottawa, Ottawa, Ontario, Canada
Corresponding Author : Donna L Johnston
Division of Hematology-Oncology
Children’s Hospital of Eastern Ontario (CHEO)
401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada
Tel: 613-737-7600 ext 2210
Fax: 613 738-4828
E-mail: [email protected]
Received March 29, 2012; Accepted April 18, 2012; Published April 28, 2012
Citation: Parker TM, Bassal M, Klaassen R, Nikkel SM, Cada M, et al. (2012) A Case of a Young Girl with Myelodysplastic Syndrome (MDS), Dysmorphic Features, Short Stature, and Developmental Delay – Is there a Link? J Clin Case Rep 2:133. doi:10.4172/2165-7920.1000133
Copyright: © 2012 Parker TM, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Myelodysplastic Syndrome (MDS) is a problem of ineffective hematopoesis, due to a clonal disorder of the hematopoetic stem cells. MDS is rare in children and considered premalignant as it often progresses to leukemia over time. There are known inherited predisposing conditions to MDS that have been reported in the literature. We describe the case of a 12-year-old girl with multiple dysmorphic features, short stature, and developmental delay with a new diagnosis of MDS (RAEB) with no confirmed genetic diagnosis linking all these features together. We propose that her underlying syndromic diagnosis may have predisposed her to MDS.

Keywords

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