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Crystal Bones: Symptoms and Effects

imperfect osteogenesis

What is crystal bone disease and what causes it?

It is a genetic and congenital disorder (from birth) that prevents the body from forming strong bones, which causes the bones to break very easily or without apparent cause.

It is caused by a defect in a gene that makes type 1 collagen. Type 1 collagen is the most abundant type in the body. Found in bones, ligaments, tendons, nails, hair, skin, and corneas, it gives them elasticity and strength.

There are several defects that can affect the gene, and the severity of this disease depends on the specific defect.

Osteogenesis imperfecta is inherited by genetic information from one parent, but it can also be due to new mutations.

What are its symptoms and effects?

The main symptoms and effects of crystal bone disease are as follows:

  • Very frequent bone fractures.
  • Bone pain.
  • Short stature.
  • Bone abnormalities (such as scoliosis or genu varum, inward bowed legs).
  • Large head and triangular face.
  • Dentinogenesis imperfecta (teeth of abnormal shape, fractures of teeth easily).
  • Hypermobility of the joints.
  • Bruising
  • Need to help support when walking.
  • Blue sclera (white part of the eye).
  • Hearing loss in adulthood.

In more serious cases, kyphosis, a curved or hunched back can also appear.

Complications of this disease can be heart failure, breathing problems such as pneumonia, or problems with the spinal cord and brainstem.

How is the diagnosis and treatment?

This disease can be diagnosed by clinical suspicion and a physical examination, both of the joints and the sclera.

The diagnosis can also be completed by a skin biopsy and / or a family DNA blood test.

In cases of a history of OI, during pregnancy a chorionic villus sampling (from the placenta) can be performed to see if the baby may have it, or in severe cases, it can be detected by ultrasound when the fetus is 16 weeks.

Regarding treatment, there is still no cure, but there are therapies to control the disease.

Pain and fractures can be reduced by taking drugs that increase bone strength and density, and by prescribing low-impact exercise (such as swimming) to strengthen bones and muscles.

In severe cases, surgery can be considered, and in all cases, psychological support is beneficial.

Written by J.Andrew

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