title: [Osteogenesis imperfecta].
abstract: BACKGROUND
  Osteogenesis imperfecta (OI) is the most common genetic disease of bone and is characterized by fragile bones and growth disorders of varying severity. Most cases of OI are inherited autosomal dominant and caused by a mutation in the collagen type I gene.
  
  
  METHODS
  Indications for OI are bone fragility, stunted growth, scoliosis, skull deformities, blue sclera, loss of hearing, dentinogenesis imperfecta and increased laxity of ligaments and skin. In most cases it is possible to make a clinical diagnosis but a skin biopsy or genetic testing can be useful; however, negative results for these tests do not exclude OI.
  
  
  METHODS
  Therapy must be carried out in a multidisciplinary team and includes conservative (e.g. physiotherapy, rehabilitation programs and orthopedic aids), operative (e.g. intramedullary stabilization procedures) and pharmaceutical (e.g. biphosphonates and growth hormones) procedures.
  
  
  CONCLUSIONS
  The prognosis depends on the type of OI and ranges from normal life expectations for type 1 patients up to up to perinatal mortality for type II patients.
authors.affiliation: Kinderorthopädie TUM Rechts der Isar, Klinikum Schwabing, Städtisches Klinikum München GmbH, Kölner Platz 1, 80804, München, Deutschland, maya.salzmann1@klinikum-muenchen.de.
authors.forename: M
authors.initials: M
authors.lastname: Salzmann
authors.forename: C
authors.initials: C
authors.lastname: Krohn
authors.forename: N
authors.initials: N
authors.lastname: Berger
mesh_terms: D000293:Adolescent; D050071:Bone Density Conservation Agents / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D003131:Combined Modality Therapy / Q000379:methods; D005260:Female; D005594:Fracture Fixation, Intramedullary / Q000379:methods*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000628:therapy*; D010808:Physical Examination / Q000379:methods*; D026741:Physical Therapy Modalities; D014057:Tomography, X-Ray Computed / Q000379:methods*
chemical_list: D050071:Bone Density Conservation Agents