Glass Bones

Osteogenesis imperfecta is the right name for the condition of the bones of glass. It is a genetic, hereditary, which leads one to not produce a protein important for solidifying the bones, collagen. Thus, the bones become extremely fragile, and many children are born with fractures and do not survive for long.

Those who survive, many suffer fractures throughout life and not grow like normal ascrianças, becoming very small and deformed. However, the mental and motor abilities of these people are not changed.

The lack of collagen affects not only bones but all body structures using this protein, for example, skin and blood vessels.

Fortunately it is an extremely rare disease, affecting about 1 in every 25,000 births.

Breaking bones is the most obvious sign. They are so fragile that a small drop, bump, bump, or, in severe cases, even a sudden movement of the body can causarfraturas. Therefore, this disease was nicknamed Bone Disease Of Glass. There are still asfraturas spontaneous, occurring without any apparent cause.

Signs and symptoms

One. Bluish eye sclera;

2nd. Triangular shaped face;

3rd. Gray and brittle teeth (dentinogenesis imperfecta);

4th. Hearing impairment;

5th. Short stature;

6th. Ease of fractures occur;

7th. Bending without fracture of bones;

Eight. Increased flexibility;

9th. Increased sweating;

10. Muscular hypotonia.

Importantly, there is a wide variety of signs and symptoms, and not all patients have all the features, as the disease has different degrees of severity. In mild cases, there may be a large improvement in symptoms during puberty, however, worsening occurs at menopause.

Diagnosis and treatment

This disease can be diagnosed even in pregnancy by ultrasound examination. Once detected, parents should make a genetic counseling to learn about the possibility of disease recurrence in a subsequent pregnancy.

Fractures are treated in the usual way, as in people without the disease. That is, it is the reduction of bone and immobilization for cell regeneration. However, when it occurs skull fracture can occur brain damage and death. In patients with osteogenesis imperfecta, regeneration occurs faster than bone and shortening of these, plus members of angles, resulting in stunted growth and abnormal.

There is a treatment based on medicines and hospital, for better health and quality of life for these patients. However, there is no cure.