Tetraphocomelia in the syndrome of Thrombocytopenia with Absent Radii (TAR syndrome)
- 1 April 1985
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 20 (4) , 571-576
- https://doi.org/10.1002/ajmg.1320200402
Abstract
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/μL. The platelet count increased steadily to 100,000/μL at 3 years. The patient required bilateral aboveknee amputations for femorotibial synostoses. We recommend postponement of all elective operations until platelet counts are normal.Keywords
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