THROMBOCYTOPENIA AND ABSENT RADIUS (TAR) SYNDROME
THROMBOCYTOPENIA AND ABSENT RADIUS (TAR) SYNDROME
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DOI：
10.1136/jmg.24.2.79
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发表时间：
1987-02-01
影响因子：
4
通讯作者：
HALL, JG
中科院分区：
文献类型：
--
作者：
HALL, JG
血小板减少症和桡骨缺如（TAR）已被认为是一种相对常见的先天性异常综合征，其特征为低巨核细胞性血小板减少症（小于100000血小板/mm 3）和双侧桡骨缺如，具有常染色体隐性遗传模式。最初，这种疾病被认为是范可尼贫血的一种形式;然而，到1969年，共有40例病例被报道，它可以被区分为一种具有与范可尼贫血完全不同的自然史的特定实体。1随后，世界各地公布了100多起案件，代表了广泛的族裔群体。已经提出了各种有趣的假设，但产生该综合征的致病机制仍不清楚。TAR的临床特征包括血液学异常（血小板、白色细胞和可能的红细胞）、骨骼异常（主要是双臂和双腿）、心脏异常（特别是法洛四联症和房间隔缺损）和牛奶过敏或不耐受（导致生命最初几年的胃肠道紊乱）。一些其他不寻常的特征也被描述过。
Thrombocytopenia and absent radius (TAR) has become recognised as a relatively common congenital anomaly syndrome characterised by hypomega-karyocytic thrombocytopenia (less than 100000 platelets per mm3) and bilateral absence of the radius with an autosomal recessive pattern of inheritance. Initially the condition was considered to be a form of Fanconi's anaemia; however, by 1969 a total of 40 cases had been reported and it could be distinguished as a specific entity with a quite different natural history from Fanconi's anaemia. 1 Subsequently, more than a hundred cases have been published from all over the world representing a broad spectrum of ethnic groups. A variety of interesting hypotheses has been made, but the pathogenic mechanisms producing the syndrome are still not understood. The clinical features of TAR include haematological abnormalities (of platelets, white cells, and possibly red cells), skeletal abnormalities (primarily of both arms and legs), cardiac abnormalities (particularly tetralogy of Fallot and atrial septal defects), and cow's milk allergy or intolerance (leading to gastrointestinal disturb-ance inthe first few years of life). A number of other unusual features have been described.