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 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.
Barisic
Ingeborg
I
Children's University Hospital Zagreb, Zagreb, Croatia. ingeborg.barisic@kdb.hr
Tokic
Visnja
V
Loane
Maria
M
Bianchi
Fabrizio
F
Calzolari
Eliza
E
Garne
Ester
E
Wellesley
Diana
D
Dolk
Helen
H
D000013:Congenital Abnormalities / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D016208:Databases, Factual; D005060:Europe / Q000453:epidemiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000453:epidemiology*; D008297:Male; D011159:Population Surveillance; D011296:Prenatal Diagnosis; D015995:Prevalence; D012042:Registries; D012307:Risk Factors; D011795:Surveys and Questionnaires; D014463:Ultrasonography