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OsteogenesisImperfecta (OI) By Jenn Levy
What Causes OI? Caused by a defect in the gene that produces collagen in the bone Specific gene defected will cause severity to the OI patient
Transmission Can be transmitted through DNA from parent to child Also can be developed by a new genetic mutation Not contagious/communicable
Who Can Get It? OI will develop only as an infant May be detected at a later age Anyone that carries the gene is more susceptible to having the disease
Signs and Symptoms People with OI will have it for life Weak bones prone to accidents Blue tints to the whites of their eyes Many bone fractures from minimal force Early hearing loss Below average height for age Bowed arms or legs (in most severe cases)
Types of OI Chronic illness Four Types of OI Type I OI: normal life span, less severe bone breaks and fractures Type II OI: most severe, result in death within the first year of life Type III OI: severe but have longer lifespans than type II, many fractures early in life, develop bone deformities Type IV OI: moderately severe, need crutches/braces to walk
Prevention Visiting a genetic counselor before conceiving can help alert a couple about OI history in their family Can not be prevented No cures for disease, but treatments
Treatment Bisphosphonates treat osteoperosis, but can increase strength in bones for OI patients Can help decrease pain in bones Swimming is a low contact activity that can help with strength More severe cases: surgery for metal rod placement against bones
Terminal? The disease is terminal  Person with OI must take precaution with every move they make for the rest of their lives

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Jennlevydiseaseppt

  • 2. What Causes OI? Caused by a defect in the gene that produces collagen in the bone Specific gene defected will cause severity to the OI patient
  • 3. Transmission Can be transmitted through DNA from parent to child Also can be developed by a new genetic mutation Not contagious/communicable
  • 4. Who Can Get It? OI will develop only as an infant May be detected at a later age Anyone that carries the gene is more susceptible to having the disease
  • 5. Signs and Symptoms People with OI will have it for life Weak bones prone to accidents Blue tints to the whites of their eyes Many bone fractures from minimal force Early hearing loss Below average height for age Bowed arms or legs (in most severe cases)
  • 6. Types of OI Chronic illness Four Types of OI Type I OI: normal life span, less severe bone breaks and fractures Type II OI: most severe, result in death within the first year of life Type III OI: severe but have longer lifespans than type II, many fractures early in life, develop bone deformities Type IV OI: moderately severe, need crutches/braces to walk
  • 7. Prevention Visiting a genetic counselor before conceiving can help alert a couple about OI history in their family Can not be prevented No cures for disease, but treatments
  • 8. Treatment Bisphosphonates treat osteoperosis, but can increase strength in bones for OI patients Can help decrease pain in bones Swimming is a low contact activity that can help with strength More severe cases: surgery for metal rod placement against bones
  • 9. Terminal? The disease is terminal Person with OI must take precaution with every move they make for the rest of their lives