Thrombocytopenia absent radius syndrome.

摘要

Thrombocytopenia absent radius (TAR) syndrome (MIM #2740000) is a rare condition characterized by bilateral absence of radii, severe thrombocytopenia with platelet counts less than 50X10~3/mul (50X10~9/L), and the presence of both thumbs. Associated multisystem congenital abnormalities frequently affect the gastrointestinal, skeletal, genitourinary, and cardiac systems. TAR syndrome was first described in 1959 and defined as a syndrome in 1969 by Hall and associates.