{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:44:55Z","timestamp":1790516695587,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T00:00:00Z","timestamp":1562803200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Achondroplasia is a rare genetic disorder resulting in short\u2010limb skeletal dysplasia. We present the largest European population\u2010based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries (1991\u20132015) were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associated anomalies, and the impact of paternal and maternal age on de novo achondroplasia were presented. The study population consisted of 434 achondroplasia cases with a prevalence of 3.72 per 100,000 births (95%CIs: 3.14\u20134.39). There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal deaths. The prenatal detection rate was significantly higher in recent years (71% in 2011\u20132015 vs. 36% in 1991\u20131995). Major associated congenital anomalies were present in 10% of cases. About 20% of cases were familial. After adjusting for maternal age, fathers &gt;34\u2009years had a significantly higher risk of having infants with de novo achondroplasia than younger fathers. Prevalence was stable over time, but regional differences were observed. All pregnancy outcomes were included in the prevalence estimate with 80.6% being live born. The study confirmed the increased risk for older fathers of having infants with de novo achondroplasia.<\/jats:p>","DOI":"10.1002\/ajmg.a.61289","type":"journal-article","created":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T14:46:13Z","timestamp":1562856373000},"page":"1791-1798","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":62,"title":["Epidemiology of achondroplasia: A population\u2010based study in Europe"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9816-3144","authenticated-orcid":false,"given":"Alessio","family":"Coi","sequence":"first","affiliation":[{"name":"Institute of Clinical Physiology, National Research Council  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Santoro","sequence":"additional","affiliation":[{"name":"Institute of Clinical Physiology, National Research Council  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ester","family":"Garne","sequence":"additional","affiliation":[{"name":"Paediatric Department Hospital Lillebaelt  Kolding Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pierini","sequence":"additional","affiliation":[{"name":"Institute of Clinical Physiology, National Research Council  Pisa Italy"},{"name":"Fondazione Toscana Gabriele Monasterio  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Claude","family":"Addor","sequence":"additional","affiliation":[{"name":"Department of Woman\u2010Mother\u2010Child University Medical Center CHUV  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Luc","family":"Alessandri","sequence":"additional","affiliation":[{"name":"Pole Femme\u2010M\u00e8re\u2010Enfants, CHR Felix Guyon, CHU La R\u00e9union, Saint\u2010Denis  La R\u00e9union France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorieke E. H.","family":"Bergman","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Center Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Bianchi","sequence":"additional","affiliation":[{"name":"Institute of Clinical Physiology, National Research Council  Pisa Italy"},{"name":"Fondazione Toscana Gabriele Monasterio  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ljubica","family":"Boban","sequence":"additional","affiliation":[{"name":"Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine Medical School University of Zagreb  Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Braz","sequence":"additional","affiliation":[{"name":"Epidemiology Department National Institute of Health Doutor Ricardo Jorge  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Cavero\u2010Carbonell","sequence":"additional","affiliation":[{"name":"Rare Diseases Research Unit Foundation for the Promotion of Health and Biomedical Research in the Valencian Region  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Gatt","sequence":"additional","affiliation":[{"name":"Malta Congenital Anomalies Register, Directorate for Health Information and Research  Guardamangia Malta"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Haeusler","sequence":"additional","affiliation":[{"name":"Medical University of Graz  Graz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kari","family":"Klungs\u00f8yr","sequence":"additional","affiliation":[{"name":"Department of Global Public Health and Primary Care University of Bergen  Bergen Norway"},{"name":"Division of Mental and Physical Health Norwegian Institute of Public Health  Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer J.","family":"Kurinczuk","sequence":"additional","affiliation":[{"name":"National Perinatal Epidemiology Unit, Nuffield Department of Population Health University of Oxford  Oxford United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Lanzoni","sequence":"additional","affiliation":[{"name":"European Commission, Joint Research Centre (JRC)  Ispra Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Lelong","sequence":"additional","affiliation":[{"name":"Paris Registry of Congenital Malformations, Inserm UMR 1153\u2014Obstetrical, Perinatal and Pediatric Epidemiology Research Team (Epop\u00e9), Center for Epidemiology and Statistics Sorbonne Paris Cit\u00e9, DHU Risks in pregnancy Paris Descartes University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Luyt","sequence":"additional","affiliation":[{"name":"South West Congenital Anomaly Register (SWCAR), Bristol Medical School University of Bristol  Bristol United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olatz","family":"Mokoroa","sequence":"additional","affiliation":[{"name":"Public Health Division of Gipuzkoa Biodonostia Research Institute  Donostia\u2010San Sebastian Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmel","family":"Mullaney","sequence":"additional","affiliation":[{"name":"HSE South East Area Department of Public Health  Kilkenny Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Nelen","sequence":"additional","affiliation":[{"name":"Provinciaal Instituut voor Hygiene (PIH)  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda J.","family":"Neville","sequence":"additional","affiliation":[{"name":"IMER Registry (Emilia Romagna Registry of Birth Defects), Center for Clinical and Epidemiological Research University of Ferrara Azienda Ospedaliero\u2014Universitaria di Ferrara  Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary T.","family":"O'Mahony","sequence":"additional","affiliation":[{"name":"HSE South (Cork &amp; Kerry) Department of Public Health  Cork Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Perthus","sequence":"additional","affiliation":[{"name":"Auvergne Registry of Congenital Anomalies (CEMC\u2010Auvergne), Department of Clinical Genetics, Centre de R\u00e9f\u00e9rence des Maladies Rares University Hospital of Clermont\u2010Ferrand  Clermont\u2010Ferrand France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Rankin","sequence":"additional","affiliation":[{"name":"Institute of Health &amp; Society, Newcastle University\/National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), Public Health England  Newcastle upon Tyne United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9437-2790","authenticated-orcid":false,"given":"Anke","family":"Rissmann","sequence":"additional","affiliation":[{"name":"Malformation Monitoring Centre Saxony\u2010Anhalt, Medical Faculty Otto\u2010von\u2010Guericke University  Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Rouget","sequence":"additional","affiliation":[{"name":"Brittany Registry of Congenital Malformations, CHU Rennes, Univ Rennes, Inserm, EHESP, Irset (Institut de recherche en sant\u00e9, environnement et travail)\u2014UMR_S 1085  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Schaub","sequence":"additional","affiliation":[{"name":"French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la M\u00e8re et de l'Enfant University Hospital of Martinique  Fort\u2010de\u2010France France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Tucker","sequence":"additional","affiliation":[{"name":"Congenital Anomaly Register &amp; 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