Article Text

Download PDFPDF
Thrombocytopenia-absent radius syndrome: a clinical genetic study
  1. K L Greenhalgh1,
  2. R T Howell2,
  3. A Bottani3,
  4. P J Ancliff4,
  5. H G Brunner5,
  6. C C Verschuuren-Bemelmans6,
  7. E Vernon7,
  8. K W Brown7,
  9. R A Newbury-Ecob1
  1. 1Department of Clinical Genetics, Level B, St Michael’s Hill, Southwell Street, Bristol BS2 8EG, UK
  2. 2South West Regional Cytogenetics Department, Southmead Hospital, Westbury-on-Trym, Bristol BS10 5NB, UK
  3. 3Division of Medical Genetics, Geneva University Hospital, Rue Michel Servet 1, 1211 Geneva, Switzerland
  4. 4Department of Haematology, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK
  5. 5Department of Human Genetics , 417 Geert Grootplein 16, 6525 GA Nijmegen, The Netherlands
  6. 6Department of Human Genetics, Academic Hospital Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands
  7. 7Department of Pathology and Microbiology, University of Bristol, School of Medical Sciences, University Walk, Bristol BS8 1TD, UK
  1. Correspondence to:
 Dr R A Newbury-Ecob, Department of Clinical Genetics, Level B, St Michael’s Hill, Southwell Street, Bristol BS2 8EG, UK;


The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to describe this condition, but it was Hall et al in 1969 who reported the first major series of patients. Since then most reports have been based on single or small numbers of cases. We report the results of a clinical study looking at the phenotype of 34 patients with TAR syndrome. All cases had a documented thrombocytopenia and bilateral radial aplasia, 47% had lower limb anomalies, 47% cow’s milk intolerance, 23% renal anomalies, and 15% cardiac anomalies. Congenital anomalies not previously described in association with TAR syndrome included facial capillary haemangiomata, intracranial vascular malformation, sensorineural hearing loss, and scoliosis. Karyotype analysis, chromosome breakage studies including premature centromeric separation and fluorescence in situ hybridisation studies looking for a deletion of chromosome 22q11 were undertaken. Two abnormal karyotypes were identified.

  • thrombocytopenia
  • absent radius
  • limb
  • syndrome

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.