Fortuna A M, Pinheiro D, Príncipe F
Instituto de Genética Médica, Porto, Portugal.
Sangre (Barc). 1995 Jun;40(3):223-5.
Thrombocytopenia with absent radius syndrome (TAR) is a rare disorder appearing at birth or soon after. The heredity pattern is autosomal recessive, although some patients in successive generations have been reported. A 24 year-old woman is presented who had moderate thrombocytopenia and shortened forearms due to lack of radius, with preserved thumbs. Her peripheral blood was normal but for a decreased platelet count. The bone marrow megakaryocytes were decreased as well. No other relatives were affected. The association of thrombocytopenia and bilateral radius aplasia, along with the differential diagnosis, are commented, stress being laid on the fact that the patient was diagnosed in adulthood.
血小板减少伴桡骨缺失综合征（TAR）是一种出生时或出生后不久出现的罕见疾病。遗传模式为常染色体隐性遗传，不过也有连续几代出现部分患者的报道。本文介绍了一位24岁女性，她因桡骨缺失出现中度血小板减少和前臂缩短，但拇指保留。其外周血除血小板计数降低外均正常。骨髓巨核细胞也减少。无其他亲属患病。本文对血小板减少与双侧桡骨发育不全的关联及鉴别诊断进行了讨论，着重强调了该患者在成年期才被确诊这一事实。
