Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome)

Am J Med Genet. 1985 Apr;20(4):571-6. doi: 10.1002/ajmg.1320200402.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Ectromelia / genetics*
  • Genes, Recessive*
  • Humans
  • Infant
  • Male
  • Platelet Count
  • Radius / abnormalities*
  • Syndrome
  • Thrombocytopenia / genetics*