Fact-sheet: Osteogenesis imperfecta
Updated on 10/03/2022 at 10:32 AM
Note : 0/10
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Definition
A group of congenital diseases characterized by bone fragility with recurrent fractures, resulting from mutations in genes encoding type 1 collagen components.
In 90% of cases: autosomal dominant hereditary transmission.
Clinical features
Brittle bone disease: multiple fractures,
hearing loss,
blue sclerae,
spinal deformities,
joint hyperlaxity,
dentinogenesis imperfecta,
respiratory distress,
skin involvement: bruising and atrophic scars,
Aortic regurgitation or mitral regurgitation
Classification
Sillence classification (1979) modified by Glorieux
Differential diagnosis
OPPG syndrome,
Bruck syndrome,
Cole-Carpenter syndrome,
Ehlers-Danlos syndrome