Descriptive epidemiology of Cornelia de Lange syndrome in Europe

Ingeborg Barisic, Visnja Tokic, Maria Loane, Fabrizio Bianchi, Elisa Calzolari, Diana Wellesley, Helen Dolk, Working Group EUROCAT

Research output: Contribution to journalArticle

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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.
LanguageEnglish
Pages51-59
JournalAmerican Journal of Medical Genetics Part A
Volume146A
Issue number1
DOIs
Publication statusPublished - 2008

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De Lange Syndrome
Epidemiology
Parturition
Extremities
Paternal Age
Epidemiological Monitoring
Databases
Hypertrichosis
Nervous System Malformations
Pregnancy
Microcephaly
Fetal Death
Congenital Heart Defects
Maternal Age
Cleft Palate
Low Birth Weight Infant
Prenatal Diagnosis
Upper Extremity
Intellectual Disability
Registries

Cite this

Barisic, I., Tokic, V., Loane, M., Bianchi, F., Calzolari, E., Wellesley, D., ... EUROCAT, W. G. (2008). Descriptive epidemiology of Cornelia de Lange syndrome in Europe. American Journal of Medical Genetics Part A, 146A(1), 51-59. https://doi.org/10.1002/ajmg.a.32016
Barisic, Ingeborg ; Tokic, Visnja ; Loane, Maria ; Bianchi, Fabrizio ; Calzolari, Elisa ; Wellesley, Diana ; Dolk, Helen ; EUROCAT, Working Group. / Descriptive epidemiology of Cornelia de Lange syndrome in Europe. In: American Journal of Medical Genetics Part A. 2008 ; Vol. 146A, No. 1. pp. 51-59.
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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. {\circledC} 2007 Wiley-Liss, Inc.",
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Barisic, I, Tokic, V, Loane, M, Bianchi, F, Calzolari, E, Wellesley, D, Dolk, H & EUROCAT, WG 2008, 'Descriptive epidemiology of Cornelia de Lange syndrome in Europe', American Journal of Medical Genetics Part A, vol. 146A, no. 1, pp. 51-59. https://doi.org/10.1002/ajmg.a.32016

Descriptive epidemiology of Cornelia de Lange syndrome in Europe. / Barisic, Ingeborg; Tokic, Visnja; Loane, Maria; Bianchi, Fabrizio; Calzolari, Elisa; Wellesley, Diana; Dolk, Helen; EUROCAT, Working Group.

In: American Journal of Medical Genetics Part A, Vol. 146A, No. 1, 2008, p. 51-59.

Research output: Contribution to journalArticle

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T1 - Descriptive epidemiology of Cornelia de Lange syndrome in Europe

AU - Barisic, Ingeborg

AU - Tokic, Visnja

AU - Loane, Maria

AU - Bianchi, Fabrizio

AU - Calzolari, Elisa

AU - Wellesley, Diana

AU - Dolk, Helen

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PY - 2008

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N2 - 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.

AB - 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.

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DO - 10.1002/ajmg.a.32016

M3 - Article

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