How to cite this article: Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, Wellesley D, Dolk H, EUROCAT Working Group. 2007. Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet Part A 146A:51–59.
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Research Article
Descriptive epidemiology of Cornelia de Lange syndrome in Europe†
Article first published online: 11 DEC 2007
DOI: 10.1002/ajmg.a.32016
Copyright © 2007 Wiley-Liss, Inc.
Additional Information
How to Cite
Barisic, I., Tokic, V., Loane, M., Bianchi, F., Calzolari, E., Garne, E., Wellesley, D. and Dolk, H. (2008), Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am. J. Med. Genet., 146A: 51–59. doi: 10.1002/ajmg.a.32016
- †
Eurocat Working Group members: M. Haeusler, Styria, Austria; V. Nelen, Antwerp, Belgium; I. Gillerot, Hainaut-Namur, Belgium; C. De Vignan, Paris, France; B. Doray, Strasbourg, France; Ch. Francannet, Auvergne, France; A. Queisser-Luft, Mainz, Germany; S. Poetzsch, Saxony Anhalt, Germany; M. O'Mahony, Cork & Kerry, Ireland; B. McDonnell, Dublin, Ireland; R. Tenconi, NE Italy, Italy; G. Scarano, Campania, Italy; S. Bianca, Sicily, Italy; M. Gatt, Malta; M. Bakker, Northern Netherlands, Netherlands; A. Latos-Bielenska, Poland; C. Matias Dias, South Portugal, Portugal; I. Portillo, Basque Country, Spain; C. Mosquera-Tenreiro, Asturas, Spain; J. Salvador, Barcelona, Spain; M.C. Addor, Vaud, Switzerland; P.A. Boyd, Oxford, United Kingdom; H. Veazey, North Thames, United Kingdom; E. Draper, Trent, United Kingdom; J. Rankin, Northern Region, United Kingdom; D. Stone, Glasgow, United Kingdom; D. Tucker, Wales, United Kingdom.
Publication History
- Issue published online: 19 DEC 2007
- Article first published online: 11 DEC 2007
- Manuscript Accepted: 15 JUL 2007
- Manuscript Received: 27 SEP 2006
Funded by
- EU Commission Directorate General Health Public Health Programme
Keywords:
- Cornelia de Lange syndrome;
- epidemiology;
- prevalence;
- congenital abnormalities;
- prenatal diagnosis;
- risk factors
Abstract
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 ≤2,500 g. Low birth weight correlated with a more severe phenotype. Severe limb anomalies were significantly more often present in males. © 2007 Wiley-Liss, Inc.