Osteogenesis imperfecta
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Osteogenesis Imperfecta. Miya Kusumoto IB Biology, Pd 4/5. Facts. Osteogenesis Imperfecta (OI) is a genetic disorder in which bones break easily. There are 8 recognized types, Type I being the mildest and Type II being the most severe.

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Osteogenesis Imperfecta

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Osteogenesis imperfecta

OsteogenesisImperfecta

Miya Kusumoto

IB Biology, Pd 4/5


Facts

Facts

  • OsteogenesisImperfecta (OI) is a genetic disorder in which bones break easily.

  • There are 8 recognized types, Type I being the mildest and Type II being the most severe.

  • 85-90% of OI cases are caused by a dominant genetic defect

  • There is not an actual cure for OI, but there are treatments that can control or prevent the symptoms


Causes and treatment

Causes and Treatment

  • OI is has an autosomal dominant inheritance pattern, meaning that a person will still have OI even though only 1 faulty gene is being passed.

  • OI is caused by a mutation on a gene that affects the body’s production level of collagen found in bones and tissues

  • Because there is no specific cure for OI, doctors focus on finding ways to minimize fractures, maximize mobility, and improve general health.

  • So, some of the treatments include swimming, physical therapy, casts, splints, medications, and orthopedic surgery


Symptoms

Symptoms

Type I OI

Type II OI

  • Bones Fracture easily

  • Weak Muscles and loose joints

  • Purple, Blue, or Grey tinted sclera (whites of the eye)

  • Triangular Face

  • Brittle Teeth

  • Hard to live after birth because of respiratory problems

  • Severe and numerous fractures and bone deformities

  • Small build with underdeveloped lungs

  • Tinted Sclera

  • Improperly formed collagen


More info

More Info

  • It is estimated that 20,000-50,000 people in the U.S. have OI

  • Affects about 6-7 people per 100,000 worldwide

  • Types I and IV are the most common


Societal issues

Societal Issues

  • There aren’t any major societal issues, in many of the mild cases, it is barely recognizable

  • OI cases appear to be similar worldwide, but there is an increased rate observed in 2 major tribal groups in Zimbabwe.


Bibiliography

Bibiliography

  • http://www.oif.org/site/PageServer

  • http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html

  • http://emedicine.medscape.com/article/947588-overview

  • http://my.clevelandclinic.org/disorders/osteogenesis_imperfecta/hic_osteogenesis_imperfecta.aspx


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