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01.07.2015 | main topic | Ausgabe 13-14/2015

Wiener Medizinische Wochenschrift 13-14/2015

Osteogenesis imperfecta: pathophysiology and treatment

Zeitschrift:
Wiener Medizinische Wochenschrift > Ausgabe 13-14/2015
Autoren:
Heike Hoyer-Kuhn, Christian Netzer, Oliver Semler

Summary

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.

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