Barisic, Ingeborg, Tokic, Visnja, Loane, Maria, Bianchi, Fabrizio, Calzolari, Elisa, Wellesley, Diana, Dolk, Helen and EUROCAT, Working Group (2008) Descriptive epidemiology of Cornelia de Lange syndrome in Europe. American Journal of Medical Genetics Part A, 146A (1). pp. 51-59. [Journal article]
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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.
|Item Type:||Journal article|
|Faculties and Schools:||Faculty of Life and Health Sciences|
Faculty of Life and Health Sciences > School of Nursing
|Research Institutes and Groups:||Institute of Nursing and Health Research|
Institute of Nursing and Health Research > Centre for Maternal, Fetal and Infant Research
|Deposited By:||Ms Maria Loane|
|Deposited On:||03 Feb 2010 15:06|
|Last Modified:||18 Oct 2011 13:01|
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