Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).
We report on an infant with the syndrome of Thrombocytopenia with Absent Radii (TAR) with severe lower-limb involvement. Amegakaryocytic thrombocytopenia was detected at 6 days when the platelet count was 11,000/microL. The platelet count increased steadily to 100,000/microL at 3 years. The patient required bilateral above-knee amputations for femorotibial synostoses. We recommend postponement of all elective operations until platelet counts are normal.
D000015:Abnormalities, Multiple / Q000235:genetics*; D004480:Ectromelia / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D010976:Platelet Count; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics*