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Osteogenesis Imperfecta Symptoms

Type V
Type V OI has similar osteogenesis imperfecta symptoms to type IV, including:
  • A dense band seen on x-rays adjacent to the growth plate of the long bones
  • Unusually large calluses, called hypertrophic calluses, at the sites of fractures or surgical procedures (a callus is an area of new bone that is laid down at the fracture site as part of the healing process)
  • Calcification of the membrane between the radius and ulna (the bones of the forearm), leading to restriction of forearm rotation
  • White sclera
  • Normal teeth
  • Bone has a "mesh-like" appearance when viewed under the microscope.
Type VI
People with this type of OI are moderately to severely affected. They have normal (white or slightly blue) sclera, and the teeth are not affected. The alkaline phosphatase (an enzyme linked to bone-forming cell activity) activity level is slightly elevated in OI Type VI, and this can be determined by a blood test. Because the clinical features are so similar to other moderate forms of OI, a bone biopsy is the only method by which OI type VI can be diagnosed with certainty. The bone from patients with this form has a distinctive "fish-scale" appearance when viewed under the microscope. Eight people with this type of OI have been identified.
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