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Glass bone disease (osteogenesis imperfecta) is easily broken by sensitization of bones. Osteogenesis imperfecta (OI) is a defect-shaped bone. It usually occurs at birth, due to genetic reasons.
Glass bone disease varies between mild form and severe form. Most cases are of mild form, and only a few bones are fragile. However, serious forms of the disease; can cause hearing loss, heart failure, spinal problems and permanent damage.
It can be life-threatening if it occurs shortly before or after birth. Approximately 20,000 people develop glass bone disease. Everyone is equally at risk.
As a result of the mutation in a gene that synthesizes type 1 collagen, a protein used to create bone, bone bone disease occurs. The mutant gene is inherited from children to be born.

Types of Disease

There are four different genes responsible for collagen production. When the disease occurs, there are mutations in some or all of these genes. These genes are responsible for eight types of glass bone disease from type 1 to type 8. The first four types are the most common. The last four types are very rare and most of them are subtypes of type 4.

Tip 1

Glass is the lightest and most common form of bone disease. This type of body produces high quality collagen, but the amount is not enough. As a result, the bones become moderately brittle. In children with type 1, even minor traumas cause cracks in the bones. This type of bone fractures is more rare in adults. There may be cracks and grooves in the teeth.

Tip 2

Glass is the most serious form of bone disease and can be fatal. In type 2, the body does not produce enough collagen or produces collagen at low quality. May cause deformation of bones. If a child is born with type 2 OI, he may have a narrow chest, broken or broken head, or a hip or undeveloped lung. Infants with type 2 OI may die in the womb or shortly after birth.

Tip 3

Type 3 is a serious form of glass bone disease. It causes bones to break easily. Type 3 produces a sufficient amount of collagen, but the quality of collagen produced is low. The bones of the child may break even before birth. Deformities are common in the bones and may become worse as the child grows.

Tip 4

Glass is the most variable form of bone disease. Because her symptoms change slightly from mild to serious. As with Type 3, the body produces enough collagen, but the quality of collagen is low. Children with Type 4 OI are typically born with crooked legs. As the age progresses, the distortion of the legs is improved.
The symptoms of glass bone disease vary according to the subtypes of the disease. Everyone born with this disease has fragile bones, but its severity varies from person to person. The main symptoms; deformations in the bones, multiple fractures, weakened joints, weak teeth, bluish color in the white part of the eye, curved arms and legs, hunchback, scoliosis, hearing loss, respiratory problems and heart disorders.

How to Diagnose?

The doctor can diagnose with X-ray. X-ray allows the doctor to see the fractures in the bones. It also makes it easier to see defects in the bones. Laboratory tests can also be used to analyze collagen structure in children. In some cases, the doctor may also receive a biopsy sample from the skin. Genetic assays can also be applied to determine if mutation is present in the genes involved.


Glass bone disease has no treatment yet. However, there are supportive therapies to reduce the risk of breaking the child's bone and to improve the quality of life. Supportive therapies; Physical therapy includes biophosphonate medications, exercises and surgery that strengthen the child's bones.
Long-term type 1 and type 4 OI patients show normal survival. Type 2 is usually fatal, shortly after birth, or death due to respiratory problems. Type 3 patients usually require a wheelchair and have less life span than type 1 and type 4.
Source: poxox blogs

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