Barisic Ingeborg, Tokic Visnja, Loane Maria, Bianchi Fabrizio, Calzolari Eliza, Garne Ester, Wellesley Diana, Dolk Helen
Children's University Hospital Zagreb, Zagreb, Croatia.
Am J Med Genet A. 2008 Jan 1;146A(1):51-9. doi: 10.1002/ajmg.a.32016.
Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present a population-based epidemiological study of the classical form of CdLS. The data were extracted from the database of European Surveillance of Congenital Anomalies (EUROCAT) database, a European network of birth defect registries which follow a standard methodology. Based on 23 years of epidemiologic monitoring (8,558,346 births in the 1980-2002 period), we found the prevalence of the classical form of CdLS to be 1.24/100,000 births or 1:81,000 births and estimated the overall CdLS prevalence at 1.6-2.2/100,000. Live born children accounted for 91.5% (97/106) of cases, fetal deaths 2.8% (3/106), and terminations of pregnancy following prenatal diagnosis 5.7% (6/106). The most frequent associated congenital malformations were limb defects (73.1%), congenital heart defects (45.6%), central nervous system malformations (40.2%), and cleft palate (21.7%). In the last 11 years, as much as 68% of cases with major malformations were not detected by routine prenatal US. Live born infants with CdLS have a high first week survival (91.4%). All patients were sporadic. Maternal and paternal age did not seem to be risk factors for CdLS. Almost 70% of patients, born after the 37th week of gestation, weighed <or=2,500 g. Low birth weight correlated with a more severe phenotype. Severe limb anomalies were significantly more often present in males.
科妮莉亚·德朗热综合征（CdLS）是一种多发性先天性异常/智力发育迟缓综合征，其特征包括特殊的畸形面容、小头畸形、多毛症、上肢缺陷、生长发育迟缓、发育延迟以及各种相关的畸形。我们开展了一项基于人群的CdLS经典型流行病学研究。数据取自欧洲先天性异常监测（EUROCAT）数据库，这是一个遵循标准方法的欧洲出生缺陷登记网络。基于23年的流行病学监测（1980 - 2002年期间有8,558,346例出生），我们发现CdLS经典型的患病率为每100,000例出生中有1.24例，即1:81,000出生，并估计CdLS的总体患病率为每100,000例中有1.6 - 2.2例。活产儿童占病例的91.5%（97/106），死胎占2.8%（3/106），产前诊断后终止妊娠占5.7%（6/106）。最常见的相关先天性畸形是肢体缺陷（73.1%）、先天性心脏病（45.6%）、中枢神经系统畸形（40.2%）和腭裂（21.7%）。在过去11年中，多达68%的有严重畸形的病例未通过常规产前超声检测出来。患有CdLS的活产婴儿第一周存活率很高（91.4%）。所有患者均为散发病例。母亲和父亲的年龄似乎不是CdLS的危险因素。几乎70%在妊娠37周后出生的患者体重≤2500克。低出生体重与更严重的表型相关。严重肢体异常在男性中更为常见。
