Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome.
We report a case of the TAR syndrome with severe abnormalities of the lower limbs. The syndrome of thrombocytopenia and radial deformities occasionally presents diagnostic difficulties when severe limb anomalies are present. Based on this case and 2 additional cases from the literature, reduction anomalies of the lower limbs should be considered part of the TAR syndrome.
D005260:Female; D005360:Fibula / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics*; D013977:Tibia / Q000002:abnormalities*