engleski

Descriptive Epidemiology of Cornelia De Lange Syndrome in Europe

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 the population-based epidemiological study results of the classical form of CdLS. The data were extracted from the database of EUROCAT (European Surveillance of Congenital Anomalies), a large European network of birth defect registries that use the same epidemiological methodologies. Based on 23 years of epidemiologic monitoring, we found the prevalence of the classical form of CdLS to be 1.24/100 000 births and estimated the overall CdLS prevalence at 1.6-2.2/100 000 births. 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%). Prenatal diagnosis by ultrasound accounts for approximately a quarter of all diagnosed cases. Live born infants with CdLS have a high first week survival rate (81%). In the majority of cases karyotype is normal. Identified abnormal karyotypes may be accidental finding, or responsible for the CdLS by disruption of the gene/genes causing CdLS phenotype. Maternal and paternal age do not seem to be risk factors for CdLS. Almost 70% of cases, born after the 37th week of gestation, weighed less than 2500 g ; low birth weight correlates with a more severe phenotype, including severe limb anomalies, which are significantly more present in males. All cases were sporadic and there was no evidence of exposure to consistent teratogenic agents.

Cornelia de Lange Syndrome; epidemiology; prevalence; congenital abnormalities; prenatal diagnosis; risk factors

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