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Clinical Services at Rush Osteogenesis Imperfecta

Osteogenesis imperfecta(OI)

What is the cause of osteogenesis imperfecta?
What are the clinical manifestations of osteogenesis imperfecta?
How is the diagnosis of osteogenesis imperfecta made?
What is the management for osteogenesis imperfecta?
What can a patient with osteogenesis imperfecta do to maintain a healthy lifestyle?
 

What is the cause of osteogenesis imperfecta?

OI is an inherited genetic condition of connective tissue in which there is a defect in collagen production. Collagen is found in ligaments, tendons and skin as well as in cartilage, bone and blood vessels. There are now about seven types of OI differentiated by genetic mode of inheritance, clinical presentation and radiographic features

What are the clinical manifestations of osteogenesis imperfecta?

  • Fractures [Picture 1] starting at an early age, often with little or no trauma
  • Short stature
  • Blue sclera [Picture 2] (outer part of the eye that is normally white)
  • Poor dentition (dentinogenesis imperfecta)
  • Progressive hearing loss
  • Hyperflexible joints [Picture 3]

How is the diagnosis of osteogenesis imperfecta made?

The clinical diagnosis of OI is made based on family history, history of fractures, characteristic physical findings, X-ray features and testing of the skin collagen.

What is the management for osteogenesis imperfecta?

As this is an inherited condition, there is no cure. Management is directed from a multidisciplinary perspective to include medical and rehabilitation physicians, orthopedic surgeons, physical therapists, audiologists, dentists and genetic counselors. Care is provided for broken bones, brittle teeth, bone loss, musculoskeletal pain and hearing problems. Investigations are ongoing to determine if pharmaceutical agents can prevent fractures

What can a patient with osteogenesis imperfecta do to maintain a healthy lifestyle?

  • Low-impact exercise (swimming, water aerobics, walking, elliptical trainers)
  • Prevent falls by keeping doorways and walkways clear. Avoid loose rugs or multiple cords on the floor
  • Keep a healthy weight
  • A balanced, healthy diet
  • Avoid smoking and heavy alcohol use


   

 





Contact Name
Rush Connective Tissue Disease Clinic
Contact Phone
(312) 563-2800
Contact E-mail
contact_rush@rush.edu



Location
Orthopedic Building
1611 W. Harrison St., Suite 510
Chicago, IL 60612



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