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

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. *Corresponding authors: 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.