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We present a population\u2010based 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\u20132002 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\u20132.2\/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 \u22642,500 g. Low birth weight correlated with a more severe phenotype. Severe limb anomalies were significantly more often present in males. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32016","type":"journal-article","created":{"date-parts":[[2007,12,12]],"date-time":"2007-12-12T00:20:48Z","timestamp":1197418848000},"page":"51-59","source":"Crossref","is-referenced-by-count":77,"title":["Descriptive epidemiology of Cornelia de Lange syndrome in Europe"],"prefix":"10.1002","volume":"146A","author":[{"given":"Ingeborg","family":"Barisic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Visnja","family":"Tokic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Loane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliza","family":"Calzolari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ester","family":"Garne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Wellesley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Dolk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"EUROCAT Working Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,12,19]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199908)19:8<706::AID-PD613>3.0.CO;2-W"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.645"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0960-7692.2001.00534.x"},{"key":"e_1_2_8_5_1","first-page":"147","article-title":"Mild de Lange\u2014syndrome\u2014does it exist","volume":"2","author":"Baraitser M","year":"1993","journal-title":"Clin Dysmorph"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1976.tb04943.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1985.tb10028.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.038240"},{"key":"e_1_2_8_9_1","first-page":"173","article-title":"Branchmann\u2010de Lange syndrome: A cause of early symmetric foetal growth delay","volume":"85","author":"Boog G","year":"1999","journal-title":"Obstet Gynecol"},{"key":"e_1_2_8_10_1","unstructured":"BoydP de ViganC GarneE.2005.EUROCAT Working Group Special report: Prenatal screening polices in Europe. 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