Brittle Bones (OsteogenesisImperfecta)

Osteogenesisimperfecta (OI) is a genetic disease that affects the production of a protein called collagen. Collagen is one of the major proteins in bones and gives strength to bones.

Symptoms of OI 

Children born with an OI may have fractures while in the womb, during childbirth, or they may have their first fracture soon after birth. Bone fractures can occur during normal treatment. Fractures may not be immediately detected and may be found later in the child's life when x-rays are taken for another reason.

Fractures in LE are unpredictable. For example, fractures that can be expected from injury often do not occur, and fractures that occur can occur in the mildest of circumstances. The good news is that the incidence of fractures often decreases with age.

There are other signs and symptoms that doctors may look for and which may also arise as a result of a collagen defect in an OI:

- Weak (weak) joints and muscle weakness.

- blue or gray discoloration of the white part of the eye (sclera)

- Teeth that break easily and may discolor.

- a tendency to bruise.

- hernia

- intolerance to heat and increased sweating.

- Scoliosis (curvature of the spine) and other bent bones.

- problems with breathing (in severe cases).

Deafness or hearing loss.

How is the oi?

OI can be transmitted in families from one generation to another in a recessive manner. This means that only the parent must carry the gene for the transmission of the OI to their children. Often, OI is the result of a new genetic mutation; In other words, it just "happens." This is true in about 35% of cases.

How OI is diagnosed 

Light OI often goes unnoticed and is not diagnosed. If there is suspicion of ROI, as a rule, due to the frequent history of fractures, doctors look for other associated symptoms, such as those mentioned above. The child may be examined by a geneticist or a doctor with knowledge in the diagnosis of OI. Now you can do a blood test and skin biopsy to provide a diagnosis. Some patients with OI have very small bones in the skull along the suture lines, where different parts of the skull meet. These bones are called Vorman's bones and can help diagnose osteogenesis imperfecta.

How is joints treated?

There is currently no cure for OI. OI treatment is symptomatic and supportive. Fractures, if they occur, should be carefully monitored to ensure adequate healing. Sometimes they have surgery to stabilize bones. Occupational therapy can be used to teach parents how to manage their children, so as not to harm them unwittingly. Orthopedic appliances can be assigned to children with joints to support their limbs as needed.