Stoll C, Alembik Y, Dott B, Roth M P
Institut de Puériculture, Centre Hospital-Universitaire, Strasbourg, France.
Paediatr Perinat Epidemiol. 1992 Jul;6(3):323-38. doi: 10.1111/j.1365-3016.1992.tb00773.x.
Risk factors were studied in 123 children with limb reduction defects (LRD) from 118,265 consecutive births of known outcome during the period from 1979 to 1987 in the area which is covered by our registry of congenital malformations. For each case a control was studied. The LRD was localised and classified according to the EUROCAT guide for the description and classification of limb defects. The prevalence of LRD was 1.04 per thousand: 82.9% of the babies were liveborn, 13.0% were late spontaneous abortion or stillborn and termination was performed in 4.0% of the cases. The proportion of males was 0.55. The most common malformations in the 51.2% of children who had at least one other anomaly than LRD were associated cardiac, digestive and renal anomalies. The pregnancy with limb anomalies was more often complicated by oligohydramnios, polyhydramnios and threatened abortion but there were no differences in parental characteristics. However, 9.7% of marriages were consanguineous (P less than 0.01) and the incidence of LRD in first-degree relatives of the children with LRD was high. First-degree relatives also had more non-limb malformations than did those of controls.
在我们先天性畸形登记所覆盖的地区，对1979年至1987年期间118,265例已知结局的连续出生婴儿中的123例肢体短小缺陷（LRD）患儿的危险因素进行了研究。对每例病例都研究了一个对照。LRD根据欧洲先天性异常监测系统（EUROCAT）肢体缺陷描述和分类指南进行定位和分类。LRD的患病率为千分之一零四：82.9%的婴儿为活产，13.0%为晚期自然流产或死产，4.0%的病例进行了引产。男性比例为0.55。在51.2%至少有一种除LRD之外其他异常的患儿中，最常见的畸形为相关的心脏、消化和肾脏异常。伴有肢体异常的妊娠更常并发羊水过少、羊水过多和先兆流产，但父母特征方面无差异。然而，9.7%的婚姻为近亲结婚（P小于0.01），LRD患儿的一级亲属中LRD发病率较高。一级亲属的非肢体畸形也比对照的一级亲属更多。
