| Descriptive epidemiology of Cornelia de Lange syndrome in Europe. | |
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MedLine Citation:
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PMID: 18074387 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Ingeborg Barisic; Visnja Tokic; Maria Loane; Fabrizio Bianchi; Eliza Calzolari; Ester Garne; Diana Wellesley; Helen Dolk; |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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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:
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Created Date: 2007-12-25 Completed Date: 2008-01-08 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 51-9 Citation Subset: IM |
Copyright Information:
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(c) 2007 Wiley-Liss, Inc. |
Affiliation:
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Children's University Hospital Zagreb, Zagreb, Croatia. ingeborg.barisic@kdb.hr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Congenital Abnormalities
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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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