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Thrombocytopenia-absent radius syndrome: a clinical genetic study.
- Source :
-
Journal of medical genetics [J Med Genet] 2002 Dec; Vol. 39 (12), pp. 876-81. - Publication Year :
- 2002
-
Abstract
- 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.
- Subjects :
- Child
Chromosome Aberrations
Chromosomes, Human, Pair 22 genetics
Digestive System Abnormalities
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotyping
Leg abnormalities
Male
Syndrome
Urogenital Abnormalities genetics
Abnormalities, Multiple genetics
Abnormalities, Multiple physiopathology
Arm abnormalities
Radius abnormalities
Thrombocytopenia genetics
Thrombocytopenia physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 39
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 12471199
- Full Text :
- https://doi.org/10.1136/jmg.39.12.876