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Descriptive epidemiology of Cornelia de Lange syndrome in Europe4

Descriptive epidemiology of Cornelia de Lange syndrome in Europe4
Descriptive epidemiology of Cornelia de Lange syndrome in Europe4
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
survival, newborn, risk factors, europe, syndrome, databases, birth weight, female, weight, infant, central nervous system, prenatal diagnosis, nervous system, congenital abnormalities, growth, research support, diagnosis, risk, epidemiology, congenital, humans, registries, genetics, ultrasonography, birth, male, prevalence, microcephaly, population surveillance, fetal death, factual, heart, pregnancy, questionnaires, comparative study, fetal, research, mental retardation, phenotype, patients
1552-4825
51-59
Barisic, Ingeborg
eecca9c6-6878-4b68-9b6c-ff0bbb3057ff
Tokic, Visnja
88452f81-e68f-45da-80d2-e03b68ffc95d
Loane, Maria
75179117-e1e8-4113-81d1-20458c7db2f2
Bianchi, Fabrizio
b064d3bd-f0c0-4177-abf4-9801479be1e9
Calzolari, Eliza
e845a4b6-7e72-49bc-81c8-15a30532293e
Garne, Ester
1e675ea0-ae2a-42a4-a851-894b4d1abd58
Wellesley, Diana
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Dolk, Helen .
7d939eed-35c9-4d47-a6e6-ed9a2fbe55c5
Barisic, Ingeborg
eecca9c6-6878-4b68-9b6c-ff0bbb3057ff
Tokic, Visnja
88452f81-e68f-45da-80d2-e03b68ffc95d
Loane, Maria
75179117-e1e8-4113-81d1-20458c7db2f2
Bianchi, Fabrizio
b064d3bd-f0c0-4177-abf4-9801479be1e9
Calzolari, Eliza
e845a4b6-7e72-49bc-81c8-15a30532293e
Garne, Ester
1e675ea0-ae2a-42a4-a851-894b4d1abd58
Wellesley, Diana
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
Dolk, Helen .
7d939eed-35c9-4d47-a6e6-ed9a2fbe55c5

Barisic, Ingeborg, Tokic, Visnja, Loane, Maria, Bianchi, Fabrizio, Calzolari, Eliza, Garne, Ester, Wellesley, Diana and Dolk, Helen . (2008) Descriptive epidemiology of Cornelia de Lange syndrome in Europe4. American Journal of Medical Genetics: Part A, 146A (1), 51-59. (doi:10.1002/ajmg.a.32016).

Record type: Article

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 <or=2,500 g. Low birth weight correlated with a more severe phenotype. Severe limb anomalies were significantly more often present in males

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Published date: 2008
Keywords: survival, newborn, risk factors, europe, syndrome, databases, birth weight, female, weight, infant, central nervous system, prenatal diagnosis, nervous system, congenital abnormalities, growth, research support, diagnosis, risk, epidemiology, congenital, humans, registries, genetics, ultrasonography, birth, male, prevalence, microcephaly, population surveillance, fetal death, factual, heart, pregnancy, questionnaires, comparative study, fetal, research, mental retardation, phenotype, patients

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Local EPrints ID: 59489
URI: https://eprints.soton.ac.uk/id/eprint/59489
ISSN: 1552-4825
PURE UUID: 1fbcec21-694b-4d95-a8d5-e326e9dbe5d9

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Date deposited: 04 Sep 2008
Last modified: 13 Mar 2019 20:30

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Contributors

Author: Ingeborg Barisic
Author: Visnja Tokic
Author: Maria Loane
Author: Fabrizio Bianchi
Author: Eliza Calzolari
Author: Ester Garne
Author: Diana Wellesley
Author: Helen . Dolk

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