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Osteogenesis Imperfecta

Osteogenesis imperfecta is a genetic condition characterized by the improper formation of bones. In this condition, your body does not have the ability to make strong bones which causes the bones to be susceptible to fractures. This condition is caused by a defective form (inherited or mutated) of the gene that produces type 1 collagen, a protein required for the formation of bone tissue. The lack of this protein causes the bones to become fragile and break with little or no force. Some of the symptoms of osteogenesis imperfecta include:

  • Short stature
  • Breathing problems
  • Brittle teeth
  • Hearing loss
  • Deformed bones
  • Scoliosis (curved spine)

An individual with osteogenesis imperfecta may break hundreds of bones across their lives. In some, this number may significantly reduce as they mature, but may become active after the age of 60 in men and after the onset of menopause in women.

Osteogenesis imperfecta can be diagnosed with imaging tests such as X-rays or ultrasound. The condition cannot be completely cured; however, it can be managed, reducing the severity and improving quality of life. The different types of treatment for osteogenesis imperfecta include:

  • Non-surgical treatments like the use of medication, immobilization (casting to help fractured bones to heal) and exercises (to increase mobility in bones and prevent further fractures)
  • Surgery is suggested for repeated fractures of the same bone, bone deformity (scoliosis) and when fractures do no heal. Surgical treatment may include placing rods in the bones to stabilize them, or realignment and fusion of the bones of the spine
  • Australian Orthopaedic Association
  • Royal Australasian College of Surgeons
  • The Children's Hospital at Westmead
  • University of New South Wales
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  • Australian Paediatric Orthopaedic Society – APOS
  • Sydney Children’s Hospitals Network  - SCHN
  • Australian Medical Association – AMA
  • Ramsay Health
  • The University of Notre Dame