Boute O, Depret-Mosser S, Vinatier D, Manouvrier S, Martin de Lassale E, Farriaux J P, Monnier J C
Service de Pédiatrie et Génétique Médicale, Hôpital Huriez, CHRU, Lille, France.
Fetal Diagn Ther. 1996 May-Jun;11(3):224-30. doi: 10.1159/000264307.
Thrombocytopenia-absent radius (TAR) syndrome is an autosomal-recessive disorder characterized by a thrombocytopenia and a bilateral radial aplasia with normal thumbs. Only TAR syndrome, out of diseases which may present with radial aplasia, typically has normal thumbs. The prenatal diagnosis is rarely made. We report two observations of TAR syndrome diagnosed in utero in the sibling. The malposition of fetal hands detectable as soon as 11 weeks of gestation requires careful search for longitudinal limb defect of the forearm, especially radial ray defect. The radial aplasia is associated with numerous causes (chromosomal, teratogenic, genetic, multifactorial). The determination of fetal hematologic values revealing a thrombocytopenia allows the prenatal diagnosis of the index case of TAR syndrome.
血小板减少伴桡骨缺如（TAR）综合征是一种常染色体隐性疾病，其特征为血小板减少以及双侧桡骨发育不全且拇指正常。在可能出现桡骨发育不全的疾病中，只有TAR综合征通常拇指正常。产前诊断很少进行。我们报告了两例在子宫内诊断出的同胞TAR综合征病例。妊娠11周时即可检测到胎儿手部位置异常，这需要仔细检查前臂的纵向肢体缺陷，尤其是桡骨射线缺陷。桡骨发育不全有多种原因（染色体、致畸、遗传、多因素）。测定胎儿血液学值显示血小板减少可实现TAR综合征先证者的产前诊断。
