TAR syndrome in an adult patient without previous diagnosis, a case report

Abstract

Thrombocytopenia with absent radii (TAR) is a rare autosomic recessive disease characterized by thrombocytopenia and bilateral radial aplasia. Its expressions include skeletal, hematologic, renal and cardiac abnormalities. The genetics bases of this syndrome remain unclear. We report a patient without a previous diagnosis of TAR syndrome that go to the consultation, after being evaluated by several medical professionals for diagnosis and treatment of blood disorders, which eventually were associated with the congenital syndrome.