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Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a condition causing extremely fragile bones. It is known as the "brittle bone disease." It is a congenital disease, meaning it is present at birth, and is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on the specific gene defect. Generally, people with OI have either inadequate collagen or have a poor quality of callagen. This leads to weak bones that can fracture easily, thin and transparant skin and muscles that lack tone.

Symptoms of Osteogenesis Imperfecta

All people with OI have weak bones, which makes them susceptible to fractures. The severity of the disease varies greatly from person to person.

Symptoms include:

  • Blue tint to the whites of their eyes (blue sclerae)

  • Bones that fracture easily

  • Early hearing loss (deafness)

  • Loose joints and ligaments (hypermobility)

  • Discolored, brittle teeth

  • Weak muscles

  • Tendency to bruise easily

  • Excessive sweating

  • Constipation

  • High-pitched voice
  • Symptoms of more severe forms of OI may include:

  • Bowed legs and arms

  • Kyphosis

  • Scoliosis (S-curve spine)

  • Respiratory difficulties

  • Often below the average height
  • Diagnosis of Osteogenesis Imperfecta
    OI is usually suspected in children whose bones break with very little force. A physical examination may show that the whites of their eyes have a blue tint. A family or the child can also be given a genetic test (a blood test) to determine the diagnosis. OI is initially diagnosed because of fractures that occur with little or no trauma or injury. X-rays may show fractures at different stages of healing. Sometimes, newborn babies with OI are born with multiple fractures.
    Treatment of Osteogenesis Imperfecta
    While there is not yet a cure for this disease, there are therapies that help reduce the pain and complications associated with OI. Bisphosphonates drugs can increase the strength and density of bone in people with OI and are especially helpful in the treatment of children. Low impact exercises such as swimming keep muscles strong and help maintain strong bones. Bracing can also be helpful for some people. Reconstructive surgery may be needed to correct any deformities. Such treatment is important because deformities (such as bowed legs or a spinal problem) can significantly affect a person's ability to move or walk. The main goal of treatment is to limit the frequency of fractures and encourage mobility and independence.
    Our Team
    At Orthopaedic Institute for Children (OIC) a team will see your child in the clinic. This team includes the orthopaedic surgeon, nurse practitioner, and therapists as needed. Our goal at OIC is to help each child function at the highest possible level.

    Read more about OI.