Osteogenesis imperfecta
Synonyms
Brittle bone disease.
Lobstein syndrome.
fragilitas ossium.
Vrolik disease.
Characteristically
blue sclerae of patient with osteogenesis imperfecta.
The classic blue sclerae of a person with osteogenesis imperfecta
medical genetics
osteology
Symptoms
Bones that break easily.
blue tinge to the whites of the eye, short height.
loose joints.
hearing loss.
Duration
Long term
CausesGenetic (autosomal dominant, new mutation)
Diagnostic method
Based on symptoms.
DNA testing.
Treatment
Healthy lifestyle (exercise, no smoking), metal rods through the long bones
PrognosisDepends on the type
Frequency1 in 15,000 people
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe.Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems, and problems with the teeth.
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