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Osteogenesis Imperfecta


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Title: Osteogenesis Imperfecta

Osteogenesis Imperfecta
  • This Learning stack was researched, edited, and
    Created By
  • Pamela Choquehuanca
  • Jennica Johnson
  • Ms. Haugen
  • Panther Science Publications 2005

  • The information contained in this stack is
    provided for educational purposes only. It should
    not be use for diagnostic or treatment purposes.
    Contact your physician for further information.

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Table of Contents
  • Introduction
  • Mode of Inheritance
  • Autosomal Dominant
  • Pedigree
  • Punnett Square
  • Mutation
  • Mosaicism
  • Clinical Description of the Disorder
  • Symptoms
  • Type I
  • Type II
  • Type III
  • Type IV
  • Complications
  • Treatment
  • Medication
  • Bisphosphonates
  • Vitamin D and Calcium
  • Detection
  • Tests
  • Diagnosis
  • Table of Statistics
  • Frequency
  • Interesting Facts
  • John C. Harris
  • Michel, Jazz Musician
  • Unbreakable
  • Glossary
  • References
  • Resources
  • Bibliography
  • Webliography
  • Credit Cards
  • Pamela Choquehuanca
  • Jennica Johnson

  • A new born lets out a cry while he is being
    cleaned and weighed. He screams when he is pick
    up or when someone touched his leg. An x-ray
    reveals a fractured femur.

A teenager check into a hospital for a second
time this year. A few month ago, he had a mental
rod put in his tibia. This time he will undergo
risky surgery to put a rod in his spine.
An her annual check up, a 45 years old woman ask
her physician for a referral to a good
orthopedist. The woman had several dozen
fractures in her childhood and teen years. Though
she has fracture-free for number of years, she is
concerned that menopause will weaken her already
fragile bones.
  • Parents bring their one year old daughter to the
    emergency room. She has been pulling to a stand,
    when suddenly the parents hear a pop and the
    little girl fells to the floor, crying with the
    pain of the broken leg.

Go Back to Table of Content
  • They all have Osteogenesis Imperfecta. A genetic
    disease that causes fragile bones. OI occurs
    equally among females and males and it occurs in
    all racial and ethnic group. Is it estimated that
    50, 000 people in U.S. have this disease.
  • This disease is also known in different names
  • OI
  • Glass bones
  • Brittle Bone Disease
  • Fragile bone disease
  • Broken bones

Go Back to Table of Content
Mode of Inheritance
  • There are three ways to get the genetic disease
  • Autosomal Dominant
  • Mutation
  • Mosaicism

Autosomal Dominant
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Autosomal Dominant
  • The defect may be inherited in an autosomal
    dominant pattern from an affected parent. This
    means that an affected parent, who carries a
    single gene for the disorder, has a 50 chance of
    having children with the disorder. Any child who
    inherits this gene will be affected.

Check out the Pedigree and Chromosomes
Go Back to Table of Content
Pedigree and Chromosomes
Affected Male
Chromosome with disease gene
Normal Male
Chromosome with healthy gene
Affected Female
Normal Female
Check out the Punnett Square
Go Back to Table of Content
Punnett Square
D dominant
d recessive
Go Back to Table of Content
  • The defect may be acquired by a spontaneous
    mutation occurring in the individual egg or sperm
    that formed the child. In this case, neither
    parent carries a gene for the disorder or is
    affected by it.
  • The parents, in this case, are no more at risk
    than the general population for having another
    child with the disorder.

Go Back to Table of Content
  • The defect may be acquired through a pattern of
    inheritance called mosaicism. This occurs when
    neither parent is affected, but one carries a
    percentage of sperm or eggs which contain the
    genetic defect.
  • Therefore, though the parents are unaffected,
    some of their children may have the disorder and
    others will not. It is estimated that about 2 to
    7 of unaffected parents who have had a child
    with OI will have another child with OI due to
    the phenomenon of mosaicism.

Go Back to Table of Content
Clinical Description of the Disorder
  • The disease is characterized by easy fracturing
    of bones, growth deficiency, abnormal teeth, thin
    skin, blue sclera, overly extensible joints.
  • All forms of osteogenesis Imperfecta include
    fragile bones and frequent bone fracture.

Go Back to Table of Content
  • Type I
  • Bone fractures more common during infancy and
    decrease after puberty
  • Collagen is less than normal
  • Bone deformity is little or absent
  • Sclera is blue
  • Easy bruising
  • Hearing loss
  • Life expectancy is normal

Type II
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  • Type II
  • Bone fractures are present at birth
  • Collagen is improperly formed
  • Death is due primarily to lung underdevelopment
    caused by rib factures lungs
  • The sclera is blue
  • Small nose
  • Lower jaw
  • Hearing not affected
  • Small Stature
  • Life until young adulthood

Type III
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  • Type III
  • 50 of individuals have bone fractures before
  • The rest have bone fractures shortly after birth
  • Collagen is improperly formed
  • The Sclera is white
  • Shortening limbs
  • Progressive deformities
  • Facial deformities
  • Hearing not affected
  • Small Stature
  • Slightly decrease in life expectancy

Type IV
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  • Type IV
  • Bone fracture begin in infancy
  • Collagen is improperly formed
  • Hearing not affected
  • Shorter than average stature
  • Slightly decrease in life expectancy
  • Type IV is the most heterogeneous group because
    it compromises those patients who do not meet the
    criteria for the other three types

Go Back to Table of Content
  • Recurrent Pneumonia
  • Heart Failure
  • Brain Damage
  • Permanent deformity
  • Breathing Problems
  • Hearing lost

Go Back to Table of Content
  • There is no cure for osteogenesis imperfecta, so
    treatment focuses on reducing the number and
    frequency of fractures.

Go Back to Table of Content
  • Bisphosphonates
  • Pamidronate
  • Pain relief
  • Therapy Increase of vertebras
  • Decrease of incidence of fractures
  • No effects on growth were reported
  • Hormone Replacement Therapy
  • Strongly recommended in postmenopausal women with

Vitamin D and Calcium
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  • To protect patients with OI from trauma and
    repeated immobilization by the fractures is
    required Vitamin D and calcium in children and

Orthopedic Treatment
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Orthopedic Treatment
  • The treatment of spinal deformities varies with
    the angle of the scoliosis.
  • After a fracture of surgery, prolonged
    immobilization should be avoided.
  • Rehabilitation therapy should started early.
  • The goal of fracture management should be to
    restore the patient to self-sufficiency as
    completely and rapidly as possible.

Roding Therapy
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Rodding Surgery
  • A surgical procedure called "rodding" is
    frequently considered for individuals with OI.
    This treatment involves inserting metal rods
    through the length of the long bones to
    strengthen them and prevent and/or correct

Genetic Counseling
Go Back to Table of Content
Genetic Counseling
  • Parents of a child with osteogenesis imperfecta
    should receive genetic counseling of they wish to
    have more children.
  • Each future child has a 50 chance of being born
    with the disorder.

Go Back to Table of Content
Parent Education
Parent Education
  • Learn how to protect the child during diapering,
    dressing, and other activities of daily living.
  • Teach the child to assume some responsibility for
    precautions during physical activity to help
    development his/her independence
  • Encourage the importance of good nutrition to
    heal bones.

Go Back to Table of Content
Parent Education
  • Administer analgesics, as ordered, to relieve
    pain from frequent fractures
  • Monitor dental and hearing needs.
  • Encourage the need for regular dental care and
  • Provide a medical identification bracelet for the

Go Back to Table of Content
  • The way to determine if a person has osteogenesis
    imperfecta is by checking the persons symptoms
    such as
  • Sclera color
  • Teeth may be yellow or even grayish blue
  • Parent genes
  • Number of Fractures through infancy

Go Back to Table of Content
  • Physical Examination
  • It may confirm the presence of fractures,
    deformities, and other symptoms
  • Bone X-rays
  • It may show multiple healed fractures

Go Back to Table of Content
  • Diagnosis of osteogenesis imperfecta is based on
    the discovery of number of fractures in the
    infants arms, ribs, legs.
  • X-rays can uncover fractures that might not be
    obvious. Child abuse can also produce broken
    bones, but the ways the bones break and which
    bones are typically broken are different than
    ostoegenesis imperfecta.

Go Back to Table of Content
Table of Statistics
Table of Statistics
  • KEY
  • 1st. Fraction noted at birth
  • In the first year
  • In pre-school
  • Early school years

Go Back to Table of Content
  • In the US
  • Incidence of OI by type is as follow
  • Type I
  • One per 30,000
  • Type II
  • One per 60,000
  • Type III
  • One per 70,000
  • Type IV
  • Rare
  • Internationally
  • A higher incidence has been observed in 2 major
    tribal groups in Zimbabwe.

Go Back to Table of Content
Interest Facts
  • There is many people with osteogenesis
    imperfecta, but having this disease doesnt mean
    that you cant progress and meet you goals as a

John C. Harris
Go Back to Table of Content
John C. Harris
  • He has work for companies such as
  • AK Steel
  • Apple computer
  • Batesville Casket Company
  • Beneficial National Bank
  • Comware Incorporated
  • GE Aircraft Engines
  • Robbins Sport Surfaces
  • He has been recognized from the Society of
    Publication Designer, New York City.
  • The nations Top Hot Web Sites and Best Show from
    Marketing Association
  • Harris played a key leadership role in
    establishing the agency as one of the first
    marketing communication firms world-wide to
    develop a web presence and an interactive cd-rom
    capabilities presentation.

Michel, Jazz Musician
Go Back to Table of Content
  • French Jazz Musician
  • He was only 3 ft. tall and weighted barely 50
  • He play the piano
  • He make three albums with Charles Lloyd
  • Some Ballads Some Blue is one of his best album.

Go Back to Table of Content
  • Samuel Jackson acts as he was with osteogenesis
  • In the movie OI is the plot.
  • The plot is about a men who survives in a train
    crash, and a strange man whose life is resolve
    around comic books tells him that he survive
    because his purpose of life is incomplete.

Go Back to Table of Content
Glossary of Terms
  • X-rays An X-ray used to detect fractures, tumors,
    or degenerative conditions of the bone.
  • Fractures A break, rupture, or crack, especially
    in bone or cartilage
  • Autosomal Dominant is an abnormal gene on one of
    the autosomal (non-sex determining) chromosomes.
    it need only exist in the inherited chromosomes
    of one parent for it to cause disease
  • Mutation A change of the DNA sequence within a
    gene or chromosome of an organism resulting in
    the creation of a new character or trait not
    found in the parental type.
  • Mosaicism condition in which tissues of
    genetically different types occur in the same
  • Chromosomes circular strand of DNA that contains
    the hereditary information necessary for cell
  • Sclera the white of the eye
  • Collagen The main supportive protein of
    cartilage, connective tissue, tendon, skin, and
  • Bisphosphonates class of drugs that inhibits the
    restoration of bone
  • Pamidronate an class of bisphosphonates that
    contains nitrogen
  • Vitamin D A fat-soluble vitamin occurring in
    several forms, especially vitamin D2 or vitamin
    D3, required for normal growth of teeth and bones
  • Calcium A soft metallic element that is a basic
    component of animals and plants and constitutes
    approx 3 percent of Earth's crust
  • Scoliosis Abnormal lateral curvature of the spine
  • Rods A thin straight piece or bar of material,
    such as metal or wood
  • Nutrition A source of nourishment food.

Go Back to Table of Content
  • National Institutes of Health Osteoporosis and
    Related Bone Diseases National Resource
    Center1232 22nd St., NW Washington, DC
    20037-1292Tel 800/624-BONE or 202/223-0344 Fax
    202/293-2356, TYY 202/466-4315http//www.osteo.o
    rg E-mail orbdnrc_at_nof.org
  • Osteogenesis Imperfecta Foundation 804 W.
    Diamond Avenue, Suite 210 Gaithersburg, MD 20878
    Tel (301) 947-0083 or 800-981-BONE Fax (301)
    947-0456 Email bonelink_at_oif.org Internet
  • Children Brittle Bone Foundation
  • Telephone (866) 694-2223 FAX 262) 947-0724
  • Postal address 7701 95th Street, Pleasant
    Prairie, WI 53158

Go Back to Table of Content
Go Back to Table of Content
Go Back to Table of Content
  • This Learning stack was researched, edited, and
    created by
  • Pamela Choquehuanca
  • Panther Science Publications 2005

  • This learning Stack was researched, edited, and
    created by
  • Jennica Johnson
  • Panther Science Publications 2005
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