Document Detail


Descriptive epidemiology of Cornelia de Lange syndrome in Europe.
MedLine Citation:
PMID:  18074387     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Ingeborg Barisic; Visnja Tokic; Maria Loane; Fabrizio Bianchi; Eliza Calzolari; Ester Garne; Diana Wellesley; Helen Dolk;
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2007-12-25     Completed Date:  2008-01-08     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  51-9     Citation Subset:  IM    
Copyright Information:
(c) 2007 Wiley-Liss, Inc.
Affiliation:
Children's University Hospital Zagreb, Zagreb, Croatia. ingeborg.barisic@kdb.hr
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MeSH Terms
Descriptor/Qualifier:
Congenital Abnormalities / epidemiology*,  genetics,  ultrasonography
Databases, Factual
Europe / epidemiology
Female
Humans
Infant, Newborn
Male
Mental Retardation / epidemiology*
Population Surveillance*
Prenatal Diagnosis
Prevalence
Questionnaires
Registries
Risk Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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