OsteogenesisImperfecta<br />By: Rabab Jafri<br />
What Causes OI?<br />The dominant mutations happen on the gene COL1A1 or COL1A2 gene<br />Recessive mutation occur on (CRT...
Chromosome 17<br />
Types of OI<br />OI was thought to have been dominant autosomal, but research has found types of recessive OI as well.<br />
Type I<br />This is the most common form of OI<br />It’s dominant autosomal<br />Least severe<br />Have normal or near-nor...
Type II<br />Most severe<br />Most people with this type die soon after birth<br />Many times fatalities caused by deforme...
Type III<br />Easily fractured bones, some occurring before birth, some healed before birth<br />Short stature<br />Whites...
Type IV<br />Less severe than type III<br />Fragile bones, fracture often<br />Below average stature<br />Eye whites have ...
Type V<br />Similar to IV in symptoms and clinically<br />Large calluses<br />Forearm rotation restricted<br />Whites of e...
Type VI<br />Similar to type IV in symptoms and clinically<br />Activity of alkaline phosphatase is elevated<br />Unknown ...
Type VII<br />Could be like type IV<br />Could be like type II, but with <br />normal eye whites<br />Below average statur...
Type VIII<br />could be like type II<br />Could be like type III<br />Normal whites of eyes<br />Growth deficiency is very...
Treatment<br />There is no known cure for OI<br />There are treatments to help symptoms of OI<br />Making sure bones are a...
Impact on people with OI<br />Since severity differs most live life normally, and others have problems<br />Some have defo...
Research  Outlook<br />Many different types of research are being done although researchers seem like they’re looking for ...
Myth Busters(AKA two extra interesting facts! :D)<br />Myth: Babies with OI should be carried around with a pillow and dis...
Myth Busters (continued)<br />Myth: If a parent has OI, so will their child<br />Truth: It could either be a dominant or r...
Recommended websites<br />Oif.org<br />Emedicine.medscape.com<br />
Organizations<br />OI Foundation<br />Medical Research Charities<br />Charity Navigator<br />National Health Council<br />
Work Cited<br />OI :: OsteogenesisImperfecta :: A Rare Genetic Disorder :: Brittle Bone<br />     Disease. Web. 18 Apr. 20...
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Osteogenesis imperfecta

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  • @Gamal El-adl Dear Dr. Gamal, I am actually a student, but you can still download the slideshare if you click on the down arrow on the right of the heart at the bottom of the presentation.
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Osteogenesis imperfecta

  1. 1. OsteogenesisImperfecta<br />By: Rabab Jafri<br />
  2. 2. What Causes OI?<br />The dominant mutations happen on the gene COL1A1 or COL1A2 gene<br />Recessive mutation occur on (CRTAP) gene or the LEPRE1 gene<br />Mutation on chromosome 17<br />OI is caused by an abnormal production of collagen. <br />Collagen structural protein material for bones, skin, cartilage, and ligaments.<br />
  3. 3. Chromosome 17<br />
  4. 4. Types of OI<br />OI was thought to have been dominant autosomal, but research has found types of recessive OI as well.<br />
  5. 5. Type I<br />This is the most common form of OI<br />It’s dominant autosomal<br />Least severe<br />Have normal or near-normal height<br />Loose joints, weak muscles<br />Whites of highs have blue, purple, or gray tint<br />Some or no bone deformity<br />Possible curved spine<br />Possible hearing loss<br />Normal collagen, less than<br />normal amount<br />
  6. 6. Type II<br />Most severe<br />Most people with this type die soon after birth<br />Many times fatalities caused by deformed lungs<br />Many fractures, severe bone deformity<br />Small stature<br />Whites of eyes tinted<br />Collagen not formed properly<br />Dominant autosomal<br />
  7. 7. Type III<br />Easily fractured bones, some occurring before birth, some healed before birth<br />Short stature<br />Whites of eyes tinted<br />Loose joints and muscle development poor in limbs<br />Curved spine<br />Possible respiratory problems<br />severe deformed bones<br />Brittle teeth and hearing loss<br />possible<br />Collagen not formed properly<br />Dominant Autosomal<br />
  8. 8. Type IV<br />Less severe than type III<br />Fragile bones, fracture often<br />Below average stature<br />Eye whites have little or no tint<br />Some bone deformity, not severe<br />Tendency toward curved spine<br />Ribs are barrel-shaped<br />Could have brittle teeth and weak hearing<br />Collagen not formed properly<br />Dominant autosomal<br />
  9. 9. Type V<br />Similar to IV in symptoms and clinically<br />Large calluses<br />Forearm rotation restricted<br />Whites of eyes normal<br />Normal teeth<br />Dominant pattern<br />This type is caused by unidentified mutations <br />Don’t have mutations in type I collagen genes<br />
  10. 10. Type VI<br />Similar to type IV in symptoms and clinically<br />Activity of alkaline phosphatase is elevated<br />Unknown whether it’s dominant or recessive, but most likely recessive<br />By 2007, only 8 people had been diagnosed with this type of OI<br />
  11. 11. Type VII<br />Could be like type IV<br />Could be like type II, but with <br />normal eye whites<br />Below average stature<br />Short arm bone<br />Short upper leg bone<br />Coxavera is possible<br />Recessive autosomal<br />Caused by CRTAP gene<br />
  12. 12. Type VIII<br />could be like type II<br />Could be like type III<br />Normal whites of eyes<br />Growth deficiency is very severe<br />Deficiency of PH31<br />Recessive autosomal<br />Caused by LEPRE1 gene<br />
  13. 13. Treatment<br />There is no known cure for OI<br />There are treatments to help symptoms of OI<br />Making sure bones are as healthy as possible is important<br />Surgical and dental procedures as well as physical therapy may be recommended<br />“Rodding Surgery” which is done by putting metal rods next to long bones to strengthen them and prevent deformity<br />
  14. 14. Impact on people with OI<br />Since severity differs most live life normally, and others have problems<br />Some have deformity of limbs and other parts of the body which could make mobility limited<br />Some just have fragile bones<br />Some have tinted eyes<br />Some have hearing problems or are deaf<br />Some don’t live long after their <br />born (type II)<br />Most of them live happy successful<br />lives like anyone else<br />
  15. 15. Research Outlook<br />Many different types of research are being done although researchers seem like they’re looking for different treatments rather than cures right now<br />The research includes looking at the affects of vibration therapy, Tariperatide (in adults), Bisphosphonates, and other treatments.<br />There is hope for a cure, but not soon, right now treatments are the main focus<br />
  16. 16. Myth Busters(AKA two extra interesting facts! :D)<br />Myth: Babies with OI should be carried around with a pillow and discouraged from moving.<br />Truth: It’s good to take precautions, but it makes it so the baby doesn’t discover movement naturally. Also immobility leads to loss in bone mass which would cause more problems<br />
  17. 17. Myth Busters (continued)<br />Myth: If a parent has OI, so will their child<br />Truth: It could either be a dominant or recessive trait. If one parent has dominant OI, there is a 50% chance their child will get it. If it’s recessive, the child has a 25% chance they’ll be affected and a 50% chance of being a carrier<br />
  18. 18. Recommended websites<br />Oif.org<br />Emedicine.medscape.com<br />
  19. 19. Organizations<br />OI Foundation<br />Medical Research Charities<br />Charity Navigator<br />National Health Council<br />
  20. 20. Work Cited<br />OI :: OsteogenesisImperfecta :: A Rare Genetic Disorder :: Brittle Bone<br /> Disease. Web. 18 Apr. 2011.<http://www.easilybrokenbones.com/>. <br />"OsteogenesisImperfecta - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. 14 Apr. 2011. Web. 18 Apr. 2011. <http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta>. <br />"OsteogenesisImperfecta: MedlinePlus." National Library of Medicine - National Institutes of Health. 11 Jan. 2011. Web. 18 Apr. 2011. <http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html>. <br />"Typed of OI." OsteogenesisImperfecta Foundation:. 2007. Web. 18 Apr. 2011. <http://www.oif.org/site/PageServer?pagename=AOI_Types>. <br />
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