http://www.cnr.it/ontology/cnr/individuo/prodotto/ID23991

Descriptive Epidemiology of Cornelia de Lange Syndrome in Europe (Articolo in rivista)

Type

Prodotto della ricerca (Classe)
Articolo in rivista (Classe)

Label

Descriptive Epidemiology of Cornelia de Lange Syndrome in Europe (Articolo in rivista) (literal)

Anno

2008-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

10.1002/ajmg.a.32016 (literal)

Alternative label

Barisic I.; Tokic V.; Loane M.; Bianchi F.; Calzolari E.; Garne E.; Wellesley D.; Dolk H.; Eurocat W. G. (2008)
Descriptive Epidemiology of Cornelia de Lange Syndrome in Europe
in American journal of medical genetics. Part A; Wiley-Liss, New York (Stati Uniti d'America)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Barisic I.; Tokic V.; Loane M.; Bianchi F.; Calzolari E.; Garne E.; Wellesley D.; Dolk H.; Eurocat W. G. (literal)

Pagina inizio

51 (literal)

Pagina fine

59 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

https://intranet.cnr.it/servizi/people/prodotto/modifica/i/23991 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

146 (literal)

Rivista

American journal of medical genetics. Part A (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note

In: American Journal of Medical Genetics Part A, vol. 146 (Part A) pp. 51 - 59. Wiley-Liss, Inc, 2008. (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

9 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

1 (literal)

Note

PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

Children's University Hospital Zagreb, Zagreb, Croatia, EUROCAT Central Registry, University of Ulster, Newtonabbey, Co Antrim, Northern Ireland, United Kingdom, CNR-IFC, Pisa, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom, EUROCAT Working Group (literal)

Titolo

Descriptive Epidemiology of Cornelia de Lange Syndrome in Europe (literal)

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. (literal)

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