Abstract

TAR syndrome (Thrombocytopenia-Absent Radius) is manifested by a bilateral absence of the radius with presence of the thumbs, thrombocytopenia and a number of other signs such as congenital heart abnormalities, facial dysmorphia and kidney defects. Prevalence is estimated to range from 0.5 to 1/100,000. In all patients a deletion of chromosome 1q21.1 was found. Management is multidisciplinary, it can include continuous surveillance of hemorrhagic syndrome, transfusion by platelet and/or sometimes globular units and orthopedic treatment. The prevention of bleeding in the first years of life remains essential as the prognosis of this syndrome is more critical during this period. We report a case of Thrombocytopenia-Absent Radius syndrome with a congenital absence of patella in a 6-year-old child .

Key words: TAR syndrome (thrombocytopenia – absent radius) , Absence of Patella, X-ray, MRI.