Osteogenesis Imperfecta (OI) or Brittle Bone Disease is a hereditary disease of bones and connective tissue that may cause varying degrees of skeletal fragility, thin skin, blue sclerae, poor teeth, hypermobility of joints, and progressive deafness. This disease occurs in many forms. In the rare congenital form, fractures are present at birth. This form is usually fatal within the first few days or weeks of life. In the late-appearing form, the child appears normal at birth but develops recurring fractures after the first year of life.
Causes & Incidences
- Can results from autosomal dominant inheritance of a defect int he amount of Type I collagen, an important part of the bone matrix.
- There is also defective osteoblastic activity and a defect of mesenchymal collagen and its derivatives.
- Multiple deformities
- Short statures
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Osteogenesis Imperfecta Pathophysiology & Schematic Diagram
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