{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T17:38:42Z","timestamp":1789753122300,"version":"4.0.1"},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,26]],"date-time":"2013-03-26T00:00:00Z","timestamp":1364256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population\u2010based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 <jats:italic>per<\/jats:italic> 100,000 or 1:495,633 births). Most cases (18\/26; 69%) were registered in the western part of Europe, where the mean prevalence is 1 in 230,695 births, compared to the prevalence 1 in 1,091,175 for the rest of Europe (<jats:italic>P<\/jats:italic>\u2009=\u20090.0003). Consanguinity was present in 7\/26 (27%) families. Ten (38%) cases were liveborn, 14 (54%) pregnancies were terminated following prenatal detection of a serious anomaly, and 2 (8%) were stillborn. Eye anomalies were found in 20\/24 (83%), syndactyly in 14\/24 (58%), and laryngeal anomalies in 5\/24 (21%) patients. Ambiguous genitalia were observed in 3\/24 (13%) cases. Bilateral renal agenesis was present in 12\/24 (50%) and unilateral in 4\/24 (17%) cases. The frequency of anorectal anomalies was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third of the total prevalence rate. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35839","type":"journal-article","created":{"date-parts":[[2013,3,27]],"date-time":"2013-03-27T04:13:07Z","timestamp":1364357587000},"page":"1012-1018","source":"Crossref","is-referenced-by-count":53,"title":["Fraser Syndrome: Epidemiological Study in a European Population"],"prefix":"10.1002","volume":"161","author":[{"given":"Ingeborg","family":"Barisic","sequence":"first","affiliation":[{"name":"Children's Hospital Zagreb, Clinical Hospital Centre Sisters of Charity, Medical School University of Zagreb Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ljubica","family":"Odak","sequence":"additional","affiliation":[{"name":"Children's Hospital Zagreb, Clinical Hospital Centre Sisters of Charity, Medical School University of Zagreb Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Loane","sequence":"additional","affiliation":[{"name":"EUROCAT Central Registry, Centre for Maternal, Fetal and Infant Research, University of Ulster Newtownabbey United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ester","family":"Garne","sequence":"additional","affiliation":[{"name":"Pediatric Department Hospital Lillebaelt Kolding Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Wellesley","sequence":"additional","affiliation":[{"name":"University Hospitals Southampton Faculty of Medicine and Wessex Clinical Genetics Service, Princess Anne Hospital Southampton United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Calzolari","sequence":"additional","affiliation":[{"name":"Istituto di Genetica Medica, University of Ferrara Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Dolk","sequence":"additional","affiliation":[{"name":"EUROCAT Central Registry, Centre for Maternal, Fetal and Infant Research, University of Ulster Newtownabbey United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Claude","family":"Addor","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larraitz","family":"Arriola","sequence":"additional","affiliation":[{"name":"Public Health Division of Gipuzkoa Instituto BIO\u2010Donostia, Basque Government, CIBER Epidemiolog\u00eda y Salud P\u00fablica\u2014CIBERESP Gipuzkoa Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorieke","family":"Bergman","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Center Groningen Groningen The 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