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Article

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

Journal of pediatric hematology/oncology - 1 Aug 2010

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

Abstract excerpt

SUMMARY: 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...

Topics

Anemia
Bone Marrow Diseases
Clinical Trials as Topic
Hematopoietic Stem Cell Transplantation
Homeodomain Proteins
Humans
Infant, Newborn
Male
Multicenter Studies as Topic
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Radius

Syndrome

Synostosis

Thrombocytopenia

Ulna

Source

Identifiers

PMID: 20562651
DOI: 10.1097/MPH.0b013e3181e5129d

Genes

HOXA11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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