Epidemiology of achondroplasia: A population‐based study in Europe

Author:

Coi Alessio1ORCID,Santoro Michele1,Garne Ester2,Pierini Anna13,Addor Marie‐Claude4,Alessandri Jean‐Luc5,Bergman Jorieke E. H.6,Bianchi Fabrizio13,Boban Ljubica7,Braz Paula8,Cavero‐Carbonell Clara9,Gatt Miriam10,Haeusler Martin11,Klungsøyr Kari1213,Kurinczuk Jennifer J.14,Lanzoni Monica15,Lelong Nathalie16,Luyt Karen17,Mokoroa Olatz18,Mullaney Carmel19,Nelen Vera20,Neville Amanda J.21,O'Mahony Mary T.22,Perthus Isabelle23,Rankin Judith24,Rissmann Anke25ORCID,Rouget Florence26,Schaub Bruno27,Tucker David28,Wellesley Diana29,Wisniewska Katarzyna30,Zymak‐Zakutnia Nataliia31,Barišić Ingeborg7

Affiliation:

1. Institute of Clinical Physiology, National Research Council Pisa Italy

2. Paediatric DepartmentHospital Lillebaelt Kolding Denmark

3. Fondazione Toscana Gabriele Monasterio Pisa Italy

4. Department of Woman‐Mother‐ChildUniversity Medical Center CHUV Lausanne Switzerland

5. Pole Femme‐Mère‐Enfants, CHR Felix Guyon, CHU La Réunion, Saint‐Denis La Réunion France

6. Department of GeneticsUniversity of Groningen, University Medical Center Groningen Groningen the Netherlands

7. Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative MedicineMedical School University of Zagreb Zagreb Croatia

8. Epidemiology DepartmentNational Institute of Health Doutor Ricardo Jorge Lisbon Portugal

9. Rare Diseases Research UnitFoundation for the Promotion of Health and Biomedical Research in the Valencian Region Valencia Spain

10. Malta Congenital Anomalies Register, Directorate for Health Information and Research Guardamangia Malta

11. Medical University of Graz Graz Austria

12. Department of Global Public Health and Primary CareUniversity of Bergen Bergen Norway

13. Division of Mental and Physical HealthNorwegian Institute of Public Health Bergen Norway

14. National Perinatal Epidemiology Unit, Nuffield Department of Population HealthUniversity of Oxford Oxford United Kingdom

15. European Commission, Joint Research Centre (JRC) Ispra Italy

16. Paris Registry of Congenital Malformations, Inserm UMR 1153—Obstetrical, Perinatal and Pediatric Epidemiology Research Team (Epopé), Center for Epidemiology and Statistics Sorbonne Paris Cité, DHU Risks in pregnancyParis Descartes University Paris France

17. South West Congenital Anomaly Register (SWCAR), Bristol Medical SchoolUniversity of Bristol Bristol United Kingdom

18. Public Health Division of GipuzkoaBiodonostia Research Institute Donostia‐San Sebastian Spain

19. HSE South East AreaDepartment of Public Health Kilkenny Ireland

20. Provinciaal Instituut voor Hygiene (PIH) Antwerp Belgium

21. IMER Registry (Emilia Romagna Registry of Birth Defects), Center for Clinical and Epidemiological ResearchUniversity of Ferrara Azienda Ospedaliero—Universitaria di Ferrara Ferrara Italy

22. HSE South (Cork & Kerry)Department of Public Health Cork Ireland

23. Auvergne Registry of Congenital Anomalies (CEMC‐Auvergne), Department of Clinical Genetics, Centre de Référence des Maladies RaresUniversity Hospital of Clermont‐Ferrand Clermont‐Ferrand France

24. Institute of Health & Society, Newcastle University/National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), Public Health England Newcastle upon Tyne United Kingdom

25. Malformation Monitoring Centre Saxony‐Anhalt, Medical Faculty Otto‐von‐Guericke University Magdeburg Germany

26. Brittany Registry of Congenital Malformations, CHU Rennes, Univ Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail)—UMR_S 1085 Rennes France

27. French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la Mère et de l'EnfantUniversity Hospital of Martinique Fort‐de‐France France

28. Congenital Anomaly Register & Information Service for Wales (CARIS) Public Health Wales, Swansea United Kingdom

29. Wessex Clinical Genetics ServiceUniversity Hospitals Southampton Southampton United Kingdom

30. Department of Preventive MedicineEpidemiology Unit, Poznan University of Medical Sciences Poznan Poland

31. Khmelnytsky Perinatal CenterOMNI‐Net Ukraine Birth Defects Program Khmelnytsky Ukraine

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Congenital generalized bone dysplasias: A clinical, radiological, and epidemiological survey;Andersen P. E.;Journal of Medical Genetics,1989

2. Concomitant achondroplasia and Chiari II malformation: A double‐hit at the cervicomedullary junction;Awad A.‐W.;World Journal of Clinical Cases,2014

3. Paper 1: The EUROCAT network‐organization and processes;Boyd P. A.;Birth Defects Research Part A: Clinical and Molecular Teratology,2011

4. Natural history of 39 patients with Achondroplasia;Ceroni J. R. M.;Clinics (São Paulo, Brazil),2018

5. Sleep‐related respiratory abnormalities and arousal pattern in Achondroplasia during early infancy;Ednick M.;The Journal of Pediatrics,2009

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