This report summarizes the clinical management of an infant with a proximal radio-ulnar synostosis and inherited bone marrow failure syndrome (PRUS/IBMFS). Molecular studies were negative for the characteristic HOXA11 mutation described earlier. He was successfully treated with a non-myeloablative hematopoietic stem cell transplantation from an human leukocyte antigen-identical sibling donor at the age of 3 months. We reviewed the literature on PRUS/IBMFS with an emphasis on the current understanding of the molecular mechanisms involved in the disease pathogenesis. Absence of the HOXA11 mutation in this case implies that molecular mechanisms beyond the HOXA11 gene, yet to be discovered, may contribute for the development of PRUS/IBMFS.
*Department of Pediatrics
‡Department of Pediatrics and Division of Hematology/Oncology, Riley Hospital for Children, Indiana University School of Medicine
§Indiana Hemophilia and Thrombosis Centre, Indianapolis, IN
†Division of Hematology Oncology/Cell Biology Program, Research Institute, The Hospital for Sick Children, The University of Toronto, Toronto, Canada
Reprints: Anjali A. Sharathkumar, MD, Riley Hospital for Children, Pediatric Hematology/Oncology, 702 Barnhill drive, Rm 4340, Indianapolis, IN 46202 (e-mail: firstname.lastname@example.org).
Received for publication November 24, 2009; accepted April 15, 2010