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    Meaning: imperfect bone formation

    Also Known As:

    Brittle Bone Disease

    Brittle Bone Syndrome

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    How Common is it?A range of 25,000 to

    50,000 Americans

    are affected by OI.This wide range is

    due to the fact that

    very mild cases ofOI often go

    unnoticed and are

    not diagnosed.

    Worldwide, about 1

    in every 20,000

    people have OI.Generally, it is a

    rare disease.

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    Q: WHAT IS OSTEOGENESIS IMPERFECTA?A: OI is a genetic disorder

    the affects the gene that

    produces collagen in your

    body. Collagen is a

    protein that connects

    tissues in your body. It

    also helps with the

    formation of teeth,

    ligaments, and sclera

    (white outer tissue of the



    multiple, frequent fractures

    muscle weakness

    joint laxity

    curved bones


    brittle teeth

    short stature

    blue sclera

    fragile skin

    triangular head and face shape

    respiratory complications

    By looking at a person, you MAY be

    able to tell if they had OI by their

    abnormally small stature, the whites of

    their eyes being a blue color, theywould have a triangular head shape,

    and could potentially be using a

    walker, wheelchair, or have casts on at

    the time. However, some people with

    OI have relatively mild symptoms and

    you MAY NOT notice that they lookdifferent in any way.

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    affecta personslife?BasedonthetypeofOI,apersonslifespancouldbeaffectedverylittle,whileitcanalsobedrasticallyaffected.Thereare8



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    TYPE I: mildest and most common form of disorder; doesnot usually affect lifespan unless a severely traumatic event

    occurs; most fractures occur during youth and adolescence

    TYPES II and III: most severe types; infants with TYPE II

    commonly die during pregnancy or shortly after birth ,

    however some with TYPE III may survive longer but withmany disabilities and traumatic events

    TYPES IV-VII: moderate forms of disease; lifespan not

    dramatically affected; more rare than type I and deal with

    different genes

    TYPE VIII: more severe type similar to types II or III butsome symptoms vary

    *There is no certain reduced life expectancy, but with more

    severe cases of OI the probability of death from accidental

    trauma or respiratory complications is highly increased.

    -Respiratory problems and accidental trauma arethe most common deaths of people who have OI.

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    Can a person be tested forOI? How is OI treated?

    YES. Testing can take place tomake a diagnosis if a personis showing symptoms of OI.Tests can also be planned forchildren whose families havebeen affected by OI. Testing

    and diagnosis is usually doneduring childhood, and adiagnosis can sometimes bemade during pregnancy.

    Methods of testing include:

    o X-Rays

    o DNA sequencing using a collagen

    sample from blood

    o Biochemical tests using a

    collagen sample from the skin

    o tests during pregnancy can be

    done through ultrasound andamniocentesis

    There is no cure for OI as of rightnow. However, there are someways of dealing with the disorder.Biophosphonates and othermedicines are used to make bonesstronger and more dense, andsurgically placing rods in thebones of the legs often helpprevent major fractures. There areminor symptoms of thebiophosphonates, including

    stomach upset and heartburn. Ona regular basis, doctors andfamilies focus on mobility andsafe exercise such as swimmingand physical therapy, as well askeeping fracture numbers to aminimum. Braces, wheelchairs,

    and casts are useful aids as well.

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    Support Groups

    The OsteogenesisImperfecta Foundation

    is a major organizationthat helps educatepeople about OI. It alsogives reference to

    several people whomyou can contact aboutlocal support groupsnear you.

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    35% of OI cases are aresult of spontaneous

    mutations, while the

    others come from

    parents affected by OI

    or parents who are


    Inheritance Patterns and Gene Location

    Dominant or Recessive?

    About 85%-90% of OI

    cases that are inheritedare inherited in dominant

    manner. There are some

    rare instances where the

    disorder is recessive an

    autosomal however. The

    different inheritancepatterns may also deal

    with slightly different


    The mutations that

    cause collagen

    problems can affect

    either the quantityof

    collagen or the

    qualityof the

    collagen produced.

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    Inheritance Patterns and Gene LocationContinued

    The gene for Osteogenesis

    Imperfecta is located on

    chromosome 17 which has 81

    million base pairs.

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    *Parents of childrenwith OI are often

    accused of child

    abuse, which is why

    they are advisedalways to carry a

    document stating

    their childs

    condition so that

    their kids arent

    taken from them at

    any point.

    *OI does not affect


    *OI was

    recognized in anEgyptian mummy

    that is dated

    back to 1000 BC.

    *The 2 forms of OIthat are inherited

    recessively were

    discovered only 4

    year ago.

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