PT  - JOURNAL ARTICLE
AU  - K L Greenhalgh
AU  - R T Howell
AU  - A Bottani
AU  - P J Ancliff
AU  - H G Brunner
AU  - C C Verschuuren-Bemelmans
AU  - E Vernon
AU  - K W Brown
AU  - R A Newbury-Ecob
TI  - Thrombocytopenia-absent radius syndrome: a clinical genetic study
AID  - 10.1136/jmg.39.12.876
DP  - 2002 Dec 01
TA  - Journal of Medical Genetics
PG  - 876--881
VI  - 39
IP  - 12
4099  - http://jmg.bmj.com/content/39/12/876.short
4100  - http://jmg.bmj.com/content/39/12/876.full
SO  - J Med Genet2002 Dec 01; 39
AB  - 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.