Clinical manifestations of the thrombocytopenia and absent radii (TAR) syndrome

Six patients with the classical features of the TAR syndrome were diagnosed at birth. In one case an older sibling was also affected. The characteristic features of foreshortened forearms and radially deviated hands were noted in all cases at presentation and confirmed radiologically. With one exception skeletal abnormalities of the lower limbs were also present. Varying degrees of thrombocytopenia were present at birth with three of the five patients having platelet counts below 50 x 10(9)/L. Bone marrow examination was performed in two patients and revealed an absence of normal megakaryocytes. Two patients with severe thrombocytopenia had bleeding complications during infancy requiring transfusion support. Severe gastroenteritis occurred in two patients, in one of whom it was attributed to cow's milk intolerance. In all patients the platelet count has risen progressively since birth. Orthopedic surgical procedures have been performed without hemorrhagic complications.