Management of children with thrombocytopenia-absent radius syndrome: an institutional experience

Abstract

Aim: Thrombocytopenia-absent radius (TAR) syndrome is characterised by bilateral absence of the radii in the presence of both thumbs and hypomegakaryocytic thrombocytopenia. We report our experience of three patients affected by TAR syndrome presenting with different clinical manifestations focusing on the management of these patients.

Methods and results: We propose the use of long-term central venous catheters to reduce discomfort because of repeated vein punctures in search for a venous access, rendered difficult by upper limbs abnormalities.

Conclusions: It is important to improve the quality of life of affected patients.