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Definition

The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation.

Acronym

RUSAT1

Synonyms

CTRUS
Radio-ulnar synostosis with amegakaryocytic thrombocytopenia
RUSAT
Thrombocytopenia, congenital, with radioulnar synostosis

 
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