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Development of a database to record orofacial manifestations in patients with rare diseases: a status report from the ROMSE (recording of orofacial manifestations in people with rare diseases) database.
Hanisch, M; Hanisch, L; Benz, K; Kleinheinz, J; Jackowski, J.
Afiliación
  • Hanisch M; Department of Cranio-Maxillofacial Surgery, University Hospital Münster, Waldeyerstrasse 30, 48149 Münster, Germany; Department of Oral Surgery and Dental Emergency Care, Faculty of Health, School of Dentistry Witten/Herdecke University, Alfred-Herrhausen-Strasse 45, 58455 Witten, Germany. Electroni
  • Hanisch L; Department of Orthodontics, Faculty of Health, School of Dentistry, Witten/Herdecke University, Alfred-Herrhausen-Strasse 44, 58455 Witten, Germany. Electronic address: lale.hanisch@gmail.com.
  • Benz K; Department of Oral Surgery and Dental Emergency Care, Faculty of Health, School of Dentistry Witten/Herdecke University, Alfred-Herrhausen-Strasse 45, 58455 Witten, Germany. Electronic address: korbinian.benz@uni-wh.de.
  • Kleinheinz J; Department of Cranio-Maxillofacial Surgery, University Hospital Münster, Waldeyerstrasse 30, 48149 Münster, Germany. Electronic address: johannes.kleinheinz@ukmuenster.de.
  • Jackowski J; Department of Oral Surgery and Dental Emergency Care, Faculty of Health, School of Dentistry Witten/Herdecke University, Alfred-Herrhausen-Strasse 45, 58455 Witten, Germany; Centre for Rare Diseases Ruhr, Competence Centre University Bochum and Witten/Herdecke University, Alexandrinenstrasse 5, 4479
Br J Oral Maxillofac Surg ; 55(5): 500-503, 2017 Jun.
Article en En | MEDLINE | ID: mdl-28238524
The aim of this working group was to establish a ROMSE (recording of orofacial manifestations in people with rare diseases) database to provide clinicians, patients, and their families with better information about these diseases. In 2011, we began to search the databases Orphanet, OMIM® (Online Mendelian Inheritance in Man®), and PubMed, for rare diseases with orofacial symptoms, and since 2013, the collected information has been incorporated into a web-based, freely accessible database. To date, 471 rare diseases with orofacial signs have been listed on ROMSE, and 10 main categories with 99 subcategories of signs such as different types of dental anomalies, changes in the oral mucosa, dysgnathia, and orofacial clefts, have been defined. The database provides a platform for general clinicians, orthodontists, and oral and maxillofacial surgeons to work on the best treatments.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Estomatognáticas / Vigilancia de la Población / Bases de Datos Factuales / Enfermedades Raras Tipo de estudio: Screening_studies Límite: Humans Idioma: En Revista: Br J Oral Maxillofac Surg Año: 2017 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Estomatognáticas / Vigilancia de la Población / Bases de Datos Factuales / Enfermedades Raras Tipo de estudio: Screening_studies Límite: Humans Idioma: En Revista: Br J Oral Maxillofac Surg Año: 2017 Tipo del documento: Article Pais de publicación: Reino Unido