Osteogenesis imperfecta
What is it?
Osteogenesis imperfecta (OI) is an inherited bone disorder that is present at birth. Brittle bone disease is another name for it. The bones of a child with OI may be soft and easily broken, they may not form normally, and they may have other problems. Mild to severe symptoms may be present.
The disease can be classified into at least eight different types. There is a great deal of variation within and between types. Based on the type of inheritance as well as the signs and symptoms, they are classified.
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Additional names
This group contains additional names:
- Brittle bones
- Osteogenesis Imperfecta
Signs & symptoms
The symptoms of OI vary greatly within and between types.
Symptoms of OI include:
Easily broken bones
Bone deformities, such as bowing of the legs
Discoloration of the white of the eye, may be blue or gray in color
A barrel shaped chest
Curved spine
Face in triangle shape
Loose joints
Easy bruising skin
Discolored teeth
Muscle weakness
Hearing loss
Diagnosis
Your baby may need to see a specialist in genetic conditions (geneticist) or bone disorders (orthopedist).
Genetic testing.
A radiograph- Many changes can be seen here, including fractures and weak or deformed bones.
Treatment
Treatment aims to prevent deformities and fractures. As your child gets older, allow him or her to function independently. Symptoms may be prevented or corrected with the following treatments:
Bisphosphonate medicines.
Care of fractures.
Rodding.
Dental procedures.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
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