Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation

Paul Castillo-Caro, Santhosh Dhanraj, Paul Haut, Kent Robertson, Yigal Dror, Anjali A. Sharathkumar

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)479-485
Number of pages7
JournalJournal of Pediatric Hematology/Oncology
Volume32
Issue number6
DOIs
StatePublished - Aug 1 2010

Keywords

  • HOXA11 mutation
  • Inherited bone marrow failure syndrome
  • Non-myeloablative stem cell transplantation
  • Proximal radio-ulnar synostosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Hematology
  • Medicine(all)

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