Thrombocytopenia and Absent Radius (TAR Syndrome) A Rare Case Presenting in a Nine Day Old Neonate

Abstract

Thrombocytopenia absent radius syndrome (TAR) is a rare genetic disorder that is apparent at birth. TAR syndrome is inherited as an autosomal recessive trait. This disorder is characterized by low levels of platelets in the blood (thrombocytopenia) resulting in potentially severe bleeding episodes primarily during infancy. Other characteristic findings include an absence of the bone on the thumb side of the forearm and underdevelopment or absence of the bone on the radial side of the forearm. Other abnormalities may also be present such as structural malfunctions of the heart, and kidneys and mental retardation that may be secondary to bleeding episodes in the brain during infancy.