Osteogenesis Imperfecta

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Osteogenesis Imperfecta

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

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Disclosure

• 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

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Introduction

• 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.

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Introduction

• 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
  like
• OI
• Glass bones
• Brittle Bone Disease
• Fragile bone disease
• Broken bones

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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
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Pedigree and Chromosomes
KEY
KEY
Affected Male
Chromosome with disease gene
Normal Male
Chromosome with healthy gene
Affected Female
Normal Female
Check out the Punnett Square
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Punnett Square
d
d
KEY
D dominant
D
d recessive
d
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Mutation
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Mutation

• 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.

Mutation
Mosaicism
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Mosaicism

• 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.

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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.

Symptoms
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Symptoms

• 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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Symptoms

• 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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Symptoms

• Type III
• 50 of individuals have bone fractures before
  birth
• 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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Symptoms

• 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

Complications
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Complications

• Recurrent Pneumonia
• Heart Failure
• Brain Damage
• Permanent deformity
• Breathing Problems
• Hearing lost

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Treatment

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

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Medication
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Medication

• 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
  OI

Vitamin D and Calcium
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Medication

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

Calcium
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
  deformities.

Genetic Counseling
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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.

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Parent Education
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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.

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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
  immunizations
• Provide a medical identification bracelet for the
  child

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Detection

• 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

Tests
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Tests

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

Diagnosis
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Diagnosis

• 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.

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Table of Statistics
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Table of Statistics

• KEY
• 1st. Fraction noted at birth
• In the first year
• In pre-school
• Early school years

Frequency
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Frequency

• 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.

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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
  person.

John C. Harris
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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
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Michel

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

Unbreakable
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Unbreakable

• Samuel Jackson acts as he was with osteogenesis
  imperfecta.
• 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.

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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
  organism
• Chromosomes circular strand of DNA that contains
  the hereditary information necessary for cell
  life.
• Sclera the white of the eye

• Collagen The main supportive protein of
  cartilage, connective tissue, tendon, skin, and
  bone
• 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.

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References

• 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 [phone] or 800-981-BONE Fax (301)
  947-0456 Email bonelink_at_oif.org Internet
  www.oif.org
• Children Brittle Bone Foundation
• Telephone [phone] FAX [phone]
• Postal address 7701 95th Street, Pleasant
  Prairie, WI 53158

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Bibliography
Webliography
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Webliography
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Credits

• This Learning stack was researched, edited, and
  created by
• Pamela Choquehuanca
• Panther Science Publications 2005

41
Credits

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