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Osteogenesis imperfecta

Osteogenesis imperfecta is a congenital (present from birth) condition of abnormal fragility of the bones.

Information about Osteogenesis imperfecta

This bone disorder is usually present at birth as an inherited disease. Osteogenesis imperfecta (OI) is classified into four major types (and further subtypes).

All four types of OI are caused by defects in the amount or structure of Type 1 collagen, an important part of the bone matrix. The collagen problem usually results from a dominant genetic defect. This defect may be acquired by several different mechanisms:

  • The defect may be inherited in an autosomal dominant pattern from an affected parent. This means that an affected parent, who carries a single gene for the disorder, has a 50% chance of having children with the disorder. Any child who inherits this gene will be affected.
  • The defect may be acquired by a spontaneous mutation occurring in the individual egg or sperm that formed the child. In this case, neither parent carries a gene for the disorder or is affected by it. The parents, in this case, are no more at risk than the general population for having another child with the disorder.
  • The defect may be acquired through a pattern of inheritance called mosaicism. This occurs when neither parent is affected, but one carries a percentage of sperm or eggs which contain the genetic defect. Therefore, though the parents are unaffected, some of their children may have the disorder and others will not. It is estimated that about 2% to 7% of unaffected parents who have had a child with OI will have another child with OI due to the phenomenon of mosaicism.

    Symptoms of  Osteogenesis imperfecta

    When people have OI, all of their bones are abnormally weak. The severity of the abnormality varies enormously -- from Type II OI, which is usually lethal in infancy (or even before birth) to Type I OI, which may be so mild that the diagnosis is not made, even in adulthood.

    The three classic symptoms of OI includes fragile bones, early hearing loss, and whites of the eyes that appear bluish (blue sclerae). Nevertheless, not all people with OI will have blue sclerae or hearing loss. All do have fragile bones, but not all people with OI actually ever break a bone.

    A variety of other symptoms may be found in the various types of OI:

    • bone fracture (broken bone)
      • more than one broken bone occurring in a single episode (multiple)
      • present at birth
      • occuring after only minor trauma
      • a minority of people with OI never break a bone
    • deformed or short extremities (such as leg deformities or arm deformities)
    • deafness (conductive hearing loss may occur in adolescents and adults)
    • kyphosis
    • kyphoscoliosis
    • short stature
    • tooth abnormalities
    • low nasal bridge
    • pectus carinatum
    • pectus excavatum
    • pes planus (flat feet)
    • joint laxity
    • hypermobility
    • easy bruising
    • bowed legs

Diagnosis of Osteogenesis imperfecta

Diagnosis is usually suspected when a baby has bone fractures after having suffered no apparent injury. Sometimes the bluish sclera serves as a diagnostic clue. Unfortunately, because of the unusual nature of the fractures occurring in a baby who cannot yet move, some parents have been accused of child abuse before the actual diagnosis of osteogenesis imperfecta was reached.

The diagnosis is confirmed by taking a tiny sample of the patient's skin (a biopsy), and performing tests on this sample in a laboratory. The collagen fibers in the skin are studied for evidence of abnormalities. These tests are highly specialized, and the results may not be available for as long as six months. Furthermore, this type of testing will yield a falsely negative result in about 15% of all people who have obvious symptoms of OI. Currently, this is the only test available to diagnose OI; genetic testing is not yet available.

Treatment of Osteogenesis imperfecta

There are no treatments available to cure OI, nor to prevent most of its complications. Most treatments are aimed at treating the fractures and bone deformities which OI causes. Splints, casts, and braces are all used. Rodding refers to a surgical procedure in which a metal rod is implanted within a bone (usually the long bones of the thigh and leg). This is done when bowing or repeated fractures of these bones has interfered with a child's ability to begin to walk.

Other treatments include hearing aids and early capping of teeth. Patients may require the use of a walker or wheelchair. Pain may be treated with a variety of medications. Swimming is a form of exercise which puts a minimal amount of strain on muscles, joints, and bones. It is helpful for increasing muscle and, therefore, joint strength.

Prognosis of Osteogenesis imperfecta

Fifty percent of all babies with OI Type II are born dead. The rest of these babies usually die within a very short time of being born. The prognosis for people with other types of OI is quite variable, depending on the severity of the disorder and the number and severity of the fractures and bony deformities.

Prevention of Osteogenesis imperfecta

There is no known way to prevent OI, although adults with OI should be carefully counseled regarding the chance of their offspring being born with the disease. In the dominant form of OI, a child who has one parent with the disease has a 50% chance of also having the disease. In the recessive form of OI, a child who has two parents with the disease has a 25% chance of having the disease, a 25% chance of being completely unaffected, and a 50% chance of being a carrier. A carrier is someone who does not have the disease itself, but "carries" the defective gene, and thus can pass it on to future offspring. A child who has only one parent with the recessive form of OI has no chance of actually having the disease, but a 50% chance of being a carrier.


This web site is intended for your own informational purposes only. No person or entity associated with this web site purports to be engaging in the practice of medicine through this medium. The information you receive is not intended as a substitute for the advice of a physician or other health care professional. If you have an illness or medical problem, contact your health care provider.


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