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    Osteogenesis Imperfecta Types : Type IV
   
 
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Type IV Osteogenesis Imperfecta is moderately severe, with improperly formed collagen. Bones fracture easily, but the whites of the eyes are normal. Some people with type IV Osteogenesis Imperfecta may be shorter than average and may have brittle teeth. Bone deformities are mild to moderate.

Type IV Osteogenesis Imperfecta is not as severe as type III, but is worse than type I. Approximately one in every twenty thousand have this form of the disease. Their collagen is improperly formed and their bones are brittle and fracture very easily. Most of their bones fracture before puberty. The degree of bone deformity in their spines and legs prevent them from walking and require them to use a wheelchair. They have a barrel shaped rib cage because their organs are the same size as they would be if they didn’t have the diseases. Because the organs are all squished within the small body, there are a number of problems that can occur, such as asthma, bowel issues, acid reflux disease, and many more. They have a high chance of Blue Sclera. As with all OI people, type III’s have a triangular shaped face, hearing loss is a major possibility, and there is a probability of brittle teeth.

Some features of Type IV Osteogenesis Imperfecta include:

  • Between Type I and Type III in severity.
  • Below average height.
  • Scoliosis.
  • Mild to moderate bone deformity.
  • Triangular face.
  • Barrel-shaped ribcage.
  • Possible hearing loss.
  • Possible brittle teeth.
  • Loose, easily overstretched joints.
  • Bones fracture easily. Most fractures occur before puberty.
  • Sclera is white or near-white (i.e. normal in color).
  • Tendency toward spinal curvature.

By studying the appearance of OI bone under the microscope, investigators noticed that some people who are clinically within the Type IV group had a distinct pattern to their bone. When they reviewed the full medical history of these people, they found that groups had other features in common. They named these groups Types V and VI OI. The mutations causing these forms of OI have not been identified, but people in these two groups do not have mutations in the type I collagen genes.

 
 
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