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Definition

Osteogenesisimperfecta (OI) is a condition mostly genetic and inherited from parents, present from birth caused by a defect in the gene that produces type 1 collagen, which is an important bone building ingredient. OI results in extremely fragile bones.

Symptoms

The common symptoms are:

  • Weak bones
  • Frequent and multiple bone fractures even as a result of minimum force or injury
  • Loose joints
  • Flat feet
  • Poor quality of teeth
  • Short stature, below average height
  • Blue sclera which is a blue tint to the whites of the eyes
  • Early hearing loss
  • Bowed (bent) arms and legs, in severe OI

Risk Factors

Children with OI parents have 50 percent chances of contracting this condition.

Diagnosis

A medical examination which indicates blue sclera in children is a sure shot indicator of OI. A definitive diagnosis happens when family DNA blood samples are submitted for a skin punch biopsy. For a family history with OI, at the time of pregnancy a chorionic villus sampling is done to check if the unborn baby has this condition. Severe forms of OI which happens due to family history or mutations can be seen on ultrasound even at 16 weeks into gestation.

Treatment

Sadly, there is no cure for OI till date. There are therapies that help us deal and manage the pain and complications that come with it. Medications like bisphosphonates are prescribed to increase the strength and the density of the bones which in turn helps reduce the pain and the fracture rate, especially in the spine.

Light exercise and low impact physical activity like swimming and walking are suggested to keep the muscles strong and agile, and strengthen the bones. In severe OI cases, inserting a metal rod through surgery or bracing is suggested to strengthen the bone and reduce the risk of fractures. Surgery is also required to correct bone deformities which can impact body esteem and self-image or the ability to walk, move or run, in the case of bowed legs.

The fact though is, that despite surgery, fractures will continue to happen and will also heal as quickly. It is a good idea to reduce the time spent in a cast as bone loss may occur in parts of the body not in use.

 

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