Two new cases of thrombocytopenia-absent radii (TAR) syndrome

Abstract

Thrombocytopenia-absent radii syndrome is characterized by the neonatal onset thrombocytopenia and bilateral absence or hypoplasia of the radii with normal or poorly formed hands and thumbs. In this paper, two unrelated female infants affected by thrombocytopenia-absent radii syndrome are described. At birth, bilateral micromelia of upper limbs, short and radially curved forearms and hypoplastic arms were observed in infants. A severe thrombocytopenia confirmed the clinical diagnosis of thrombocytopenia-absent radii syndrome. One of them died on 19th day at home with hemorrhagic complications because she was discharged by her family. Other patient supported with thrombocyte suspensions is now eight months old and is still being followed closely at our outpatient department. As a result, two patients with thrombocytopenia-absent radii syndrome which are seen rarely discussed with physical, laboratory and follow specifications.