Also called Brittle bone disease it is a congenital connective tissue disorder.
Clinical features:
- Fragility of bone
- Osteopenia
- Variable degrees of short stature
- Progressive skeletal deformities
- HEENT - blue sclerae (translucent thin connective tissue over choroid)
- 50% hearing loss (maturity-onset deafness)
- Dentinogenesis imperfecta
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