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

doi:10.1097/MPH.0b013e3181e5129d

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

Journal article

Peer reviewed

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 and Anjali A Sharathkumar

Journal of pediatric hematology/oncology, Vol.32(6), pp.479-485

08/2010

DOI: 10.1097/MPH.0b013e3181e5129d

PMID: 20562651

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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.

Thrombocytopenia - etiology

Humans

Hematopoietic Stem Cell Transplantation

Ulna - abnormalities

Male

Clinical Trials as Topic

Radius - abnormalities

Synostosis - pathology

Bone Marrow Diseases - physiopathology

Homeodomain Proteins - genetics

Syndrome

Multicenter Studies as Topic

Synostosis - complications

Bone Marrow Diseases - congenital

Bone Marrow Diseases - surgery

Mutation

Anemia - etiology

Infant, Newborn

Details

Title: Subtitle: Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation
Creators: Paul Castillo-Caro - Department of Pediatrics, Riley Hospital for Children, Indiana University School of MedicineCentre, Indianapolis, IN 46202, USA
Santhosh Dhanraj
Paul Haut
Kent Robertson
Yigal Dror
Anjali A Sharathkumar
Resource Type: Journal article
Publication Details: Journal of pediatric hematology/oncology, Vol.32(6), pp.479-485
DOI: 10.1097/MPH.0b013e3181e5129d
PMID: 20562651
ISSN: 1077-4114
eISSN: 1536-3678
Language: English
Date published: 08/2010
Academic Unit: Stead Family Department of Pediatrics; Hematology/Oncology
Record Identifier: 9984093209002771

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