title: Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives.
abstract: Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone fragility. In very early life, this can lead to multiple fractures and progressive bone deformities, including long bone bowing and scoliosis. Multidisciplinary management improves quality of life for patients with osteogenesis imperfecta. It consists of physical therapy, medical treatment and orthopaedic surgery as necessary. Medical treatment consists of bone-remodelling drug therapy. Bisphosphonates are widely used in the treatment of moderate to severe osteogenesis imperfecta, from infancy to adulthood. Other more recent drug therapies include teriparatide and denosumab. All these therapies target the symptoms and have effects on the mechanical properties of bone due to modification of bone remodelling, therefore influencing skeletal outcome and orthopaedic surgery. Innovative therapies, such as progenitor and mesenchymal stem cell transplantation, targeting the specific altered pathway rather than the symptoms, are in the process of development.
authors.affiliation: Unité Pédiatrique de Chirurgie Orthopédique et raumatologique UPCOT, Hôpital de l'Enfance, Lausanne University Hospital, Switzerland.
authors.forename: Aline
authors.initials: A
authors.lastname: Bregou Bourgeois
authors.affiliation: Rheumatology and Centre of Bone Diseases, Lausanne University Hospital, Switzerland.
authors.forename: Bérengère
authors.initials: B
authors.lastname: Aubry-Rozier
authors.affiliation: Molecular Disease Centre, Child Medicine Department, Lausanne University Hospital, Switzerland.
authors.forename: Luisa
authors.initials: L
authors.lastname: Bonafé
authors.affiliation: Regenerative Therapy Unit, Department of Musculoskeletal Medicine, Service of Plastic, Reconstructive & Hand Surgery, Lausanne University Hospital, Switzerland.
authors.forename: Lee
authors.initials: L
authors.lastname: Laurent-Applegate
authors.affiliation: Laboratory of Biomechanical Orthopaedics, Institute of Bioengineering, EPFL, Lausanne, Switzerland.
authors.forename: Dominique P
authors.initials: DP
authors.lastname: Pioletti
authors.affiliation: Unité Pédiatrique de Chirurgie Orthopédique et Traumatologique UPCOT, Hôpital de l'Enfance, Lausanne University Hospital, Switzerland.
authors.forename: Pierre-Yves
authors.initials: PY
authors.lastname: Zambelli
mesh_terms: D050071:Bone Density Conservation Agents / Q000627:therapeutic use*; D000069448:Denosumab / Q000627:therapeutic use*; D004164:Diphosphonates / Q000627:therapeutic use*; D050723:Fractures, Bone / Q000517:prevention & control; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000188:drug therapy* / Q000601:surgery / Q000628:therapy; D026741:Physical Therapy Modalities; D019379:Teriparatide / Q000627:therapeutic use*
chemical_list: D050071:Bone Density Conservation Agents; D004164:Diphosphonates; D019379:Teriparatide; D000069448:Denosumab