Osteogenesis imperfecta

What is osteogenesis imperfecta?

Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder in which bones fracture very easily.

It is a rare inherited disease characterized by a disturbance in normal bone formation. Bone mass is reduced and this causes the bones to fracture easily.

Prognosis of the disease

The prognosis varies depending on the type of disease each person has, but generally people with this genetic disorder can lead a successful and productive life despite the deformities.

Symptoms of osteogenesis imperfecta

Symptoms of osteogenesis imperfecta include the following:

  • Bone fragility
  • Kyphoscoliosis or severe deviation of the spine
  • Respiratory infections
  • Severe neurological problems
  • Blue coloration of the whites of the eyes
  • Abnormalities of the teeth
  • Deafness
  • Scarring
  • Dislocations
  • Heart problems

Medical tests for osteogenesis imperfecta

To diagnose osteogenesis imperfecta, an x-ray of the bones can be performed in which signs can be seen that may indicate the presence of the disease. However, the definitive diagnosis must be made on the basis of a genetic study, which can demonstrate the existence of mutations in the collagen gene.

What are the causes of osteogenesis imperfecta?

Osteogenesis imperfecta is caused by a genetic defect that affects the way in which the body produces collagen, a protein that helps to strengthen bones. This defect can be of two types:

  • Autosomal dominant: the person who inherits an affected gene, from the mother or father, inherits the disease.
  • Autosomal recessive: it is necessary to inherit two affected genes from both mother and father to develop the disease.
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Can it be prevented?

This disease cannot be prevented. In some cases, it can be diagnosed before birth by ultrasound or biopsy. In this way, the diagnosis allows, only in some countries, the parents to decide to abort.

Treatments for osteogenesis imperfecta

At present, there is no treatment indicated to cure the disease. Treatment is based on rehabilitation programs and surgery for fractures and deformities.

There are some surgeons who recommend inserting metal pins inside the long bones in order to provide stability.

Which specialist treats it?

The specialist in charge of treating osteogenesis imperfecta is the pediatric trauma specialist.