Nouveautés dans l'ostéogenèse imparfaite: de la recherche à la prise en charge multidisciplinaire [News in osteogenesis imperfecta: from research to clinical management]

Details

Serval ID
serval:BIB_EE63C48C6156
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Title
Nouveautés dans l'ostéogenèse imparfaite: de la recherche à la prise en charge multidisciplinaire [News in osteogenesis imperfecta: from research to clinical management]
Journal
Revue medicale suisse
Author(s)
Aubry-Rozier B., Unger S., Bregou A., Freymond Morisod M., Vaswani A., Scheider P., Bonafé L.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Publication state
Published
Issued date
18/03/2015
Volume
11
Number
466
Pages
657-658,660-662
Language
french
Notes
Publication types: English Abstract ; Journal Article
Publication Status: ppublish
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

Keywords
Female, Genetic Counseling/methods, Humans, Interdisciplinary Communication, Osteogenesis Imperfecta/diagnosis, Osteogenesis Imperfecta/genetics, Osteogenesis Imperfecta/therapy, Patient Care/methods, Patient Education as Topic/methods, Pregnancy, Prenatal Diagnosis/methods
Pubmed
Create date
28/12/2015 14:45
Last modification date
20/08/2019 17:15
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