[News in osteogenesis imperfecta: from research to clinical management]

Rev Med Suisse. 2015 Mar 18;11(466):657-8, 660-2.
[Article in French]

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

Publication types

  • English Abstract

MeSH terms

  • 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*