title: [News in osteogenesis imperfecta: from research to clinical management].
abstract: Osteogenesis imperfecta (OI) is a rare genetic disease. Today we are able to propose an adapted and efficient management to the patients with this rare disorder (and their families) thanks to a strong collaboration of clinicians and researchers. Recent knowledge regarding the genetics of OI permits an accurate diagnosis of the specific type of OI and its own molecular mechanism, a genetic counseling for family planning and prenatal diagnosis, and in addition more targeted therapeutic options. A specific support with re-education for patients with OI is necessary and efficient. To optimize patient care, a multidisciplinary consultation is proposed at the CHUV, moreover a web site is available for patients, families and therapists: www.infomaladiesrares.ch
authors.forename: B
authors.initials: B
authors.lastname: Aubry-Rozier
authors.forename: S
authors.initials: S
authors.lastname: Unger
authors.forename: A
authors.initials: A
authors.lastname: Bregou
authors.forename: M
authors.initials: M
authors.lastname: Freymond Morisod
authors.forename: A
authors.initials: A
authors.lastname: Vaswani
authors.forename: P
authors.initials: P
authors.lastname: Scheider
authors.forename: L
authors.initials: L
authors.lastname: Bonafé
mesh_terms: D005260:Female; D005817:Genetic Counseling / Q000379:methods; D006801:Humans; D033183:Interdisciplinary Communication; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D005791:Patient Care / Q000379:methods*; D010353:Patient Education as Topic / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*