Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations

Am J Med Genet. 1989 Oct;34(2):202-6. doi: 10.1002/ajmg.1320340214.


We report on a boy with absent radii and intermittent thrombocytopenia. He has many other manifestations of the thrombocytopenia absent radius (TAR) syndrome but in addition has manifestations not previously described: palatoschisis of the soft palate, subcricoid stenosis, duodenal atresia and extreme sensitivity of chromosomes to X-rays. Our patient could either represent a unique condition or unusual variability of TAR syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Humans
  • Infant, Newborn
  • Male
  • Phenotype
  • Radius / abnormalities*
  • Syndrome
  • Thrombocytopenia / complications*
  • Thrombocytopenia / genetics
  • Ulna / abnormalities