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Osteogenesis Imperfecta
Osteogenesis Imperfecta (OI) is a genetic disorder characterized by
bones that break easily, often from little or no apparent cause. There
are at least four recognized forms of the disorder, representing a range
of severities. For example, a person may have just a few or as many as
several hundred fractures in a lifetime.
Risk Factors
- Loose joints and muscle weakness
- Sclera (whites of the eyes) usually have a blue, purple, or gray tint
- Triangular face
- Tendency toward spinal curvature
- Bone deformity absent or minimal
- Brittle teeth possible
- Hearing loss possible, often beginning in early 20s or 30s
- Collagen structure is normal, but the amount is less than normal
- Small stature with underdeveloped lungs
- Collagen improperly formed
- Bones fracture easily
- Short stature
- Barrel-shaped rib cage
- Bone has a “mesh-like” appearance when
viewed under the microscope
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