Martínez-Frías M L, Bermejo Sánchez E, García García A, Pérez Fernández J L, Cucalón Manzanos F, Calvo Aguilar M J, Ripalda Crespo M J
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid.
An Esp Pediatr. 1998 Dec;49(6):619-23.
There are numerous published papers on TAR syndrome. Nevertheless, most of them refer to cases or families with several affected members, but we could find no publication epidemiologically analyzing a consecutive series of cases.
We show the characteristics of the six cases with TAR syndrome identified in the consecutive series of 25,967 malformed live born infants detected among 1,431,368 live births surveyed by the ECEMC (Spanish Collaborative Study of Congenital Malformations) since April 1976 until June 1997.
The minimal estimated frequency of TAR syndrome in our area is 0.42 per 100,000 live born infants, with a confidence interval of 0.15 to 0.91. There was no known consanguinity among the cases' parents, nor other affected family members. The sex ratio was 1:1. Although it is generally considered that the syndrome is autosomal recessive, genetic heterogeneity cannot be ruled out.
Our cases concur with published data with respect to the low frequency of consanguineous parents. However we did not find a higher proportion of girls affected as has been described previously.
关于血小板减少伴桡骨缺失综合征（TAR综合征）已有大量发表的论文。然而，其中大多数涉及有多名受累成员的病例或家庭，但我们未找到对一系列连续病例进行流行病学分析的出版物。
我们展示了自1976年4月至1997年6月期间，在西班牙先天性畸形协作研究（ECEMC）调查的1,431,368例活产中检测出的25,967例畸形活产婴儿的连续系列中确诊的6例TAR综合征病例的特征。
我们地区TAR综合征的最低估计发病率为每100,000例活产婴儿中有0.42例，置信区间为0.15至0.91。病例的父母之间以及其他受影响的家庭成员之间均无已知的近亲关系。性别比为1:1。尽管一般认为该综合征是常染色体隐性遗传，但不能排除遗传异质性。
我们的病例在近亲父母频率较低方面与已发表的数据一致。然而，我们并未发现如先前所述的受影响女孩比例较高的情况。
