title: Osteogenesis imperfecta: pathophysiology and treatment.
abstract: Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. Recently recessive forms have been described influencing differentiation and activity of osteoblasts and osteoclasts. Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. Additional patients can be affected by dwarfism, scoliosis Dentinogenesis imperfecta, deafness and a blueish discoloration of the sclera. During childhood state of the art medical treatment are i.v. bisphosphonates to increase bone mass and to reduce fracture rate. Surgical interventions are needed to treat fractures, to correct deformities and should always be accompanied by physiotherapeutic and rehabilitative interventions.
authors.affiliation: Skeletal Dysplasia Clinic, Children's Hospital, University of Cologne, Kerpenerstr. 62, 50931, Cologne, Germany, joerg.semler@uk-koeln.de.
authors.forename: Heike
authors.initials: H
authors.lastname: Hoyer-Kuhn
authors.forename: Christian
authors.initials: C
authors.lastname: Netzer
authors.forename: Oliver
authors.initials: O
authors.lastname: Semler
mesh_terms: D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D004164:Diphosphonates / Q000008:administration & dosage; D005260:Female; D005592:Fracture Fixation; D005598:Fractures, Spontaneous / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007262:Infusions, Intravenous; D008297:Male; D010006:Osteoblasts / Q000502:physiology; D010010:Osteoclasts / Q000502:physiology; D010013:Osteogenesis Imperfecta / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy*; D026741:Physical Therapy Modalities
chemical_list: C000601279:COL1A2 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D004164:Diphosphonates