oi by suhail

8/2/2019 OI by Suhail

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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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Alternative namesOI Glass bones Brittle Bone Disease Fragile bone disease

Broken bones


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What is osteogenesis Imperfecta? What Are Some Types of Osteogenesis Imperfecta? What Causes Osteogenesis Imperfecta? What Are the Symptoms of Osteogenesis Imperfecta?

How Is Osteogenesis Imperfecta Diagnosed? How Is Osteogenesis Imperfecta Treated?
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Osteo -bone

Genesis - creationImperfecta - imperfect Osteogenesis imperfecta (OI) is disorder of

congenital bone fragility caused by mutations in the genes that codify for type I procollagen .


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Incidence

Incidence of forms of OI recognizable at birth is 1/20,000.Incidence of mild forms not recognizable until later in life is ~1/21,000 OI + Marfans Syndrome are the most common heritable connective tissue disorders No racial or ethnic predilection


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The following 4 types of osteogenesis imperfecta have been reported:1

Type I - Mild forms Type II - Extremely severe Type III - Severe Type IV - Undefined


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Type I= mild (IA),(IB) Type II= severe and usually lethal in the

perinatal period (IIA),(IIB) Type III= considered progressive and

deforming

Type IV= deforming, but with normal scleras
http://en.wikipedia.org/wiki/Sclerahttp://en.wikipedia.org/wiki/Sclera


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Type V = shares the same clinical features of IV.

Type VI= shares the same clinical features of IV.

Type VII=associated with cartilage associated protein

Type VIII= associated with the protein leprecan
http://en.wikipedia.org/wiki/Leprecanhttp://en.wikipedia.org/wiki/Leprecan


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Types contd

types I and IV are autosomal dominant,

types II and III are autosomal recessive


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SymptomsType 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
http://images.google.com/imgres?imgurl=http://guide.orthogate.com/images/chapter8/resources/orthopod/fibular_dysplasia2.jpg&imgrefurl=http://guide.orthogate.com/chapter8/illust.html&h=640&w=512&sz=108&tbnid=dYnThUVFlaoJ:&tbnh=135&tbnw=108&hl=en&start=104&prev=/images?q=osteogenesis+imperfecta&start=100&hl=en&lr=&ie=UTF-8&sa=N


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SymptomsType 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
http://images.google.com/imgres?imgurl=http://www.oiaustralia.org/pics/josh.jpg&imgrefurl=http://www.oiaustralia.org/main.html&h=459&w=419&sz=14&tbnid=W56sHpni5VMJ:&tbnh=125&tbnw=114&hl=en&start=93&prev=/images?q=osteogenesis+imperfecta&start=80&hl=en&lr=&ie=UTF-8&sa=N


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SymptomsType 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


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SymptomsType 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


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Complications

Recurrent Pneumonia Heart Failure Brain Damage Permanent deformity

Breathing Problems Hearing lost


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Each of the genes that cause OI plays a role in how the body makes collagen.

Collagen is a material in bones that helps make them strong. When these genes arent working properly, there isnt enough collagen, or the collagen doesnt work properly. This leads to weak bones that break easily.


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Diagnosis

No single test can identify osteogenesis

imperfecta.Family history Medical history Results from a physical exam X rays


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TreatmentThere is no cure for osteogenesis imperfecta, so treatment focuses on

reducing the number and frequency of fractures .


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MedicationBisphosphonatesPamidronate

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


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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


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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.


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Rodding Surgery A surgical procedure called "rodding" is frequently considered for individuals with OI. This treatm ent in volves inserting metal rods through the length of the long bones to

strengthen them and prevent and/or correct deformities.
http://images.google.com/imgres?imgurl=http://plaza.ufl.edu/giecanoy/treatment_files/image003.jpg&imgrefurl=http://plaza.ufl.edu/giecanoy/treatment.htm&h=323&w=248&sz=6&tbnid=4NRRI0l2QWIJ:&tbnh=113&tbnw=87&hl=en&start=1&prev=/images?q=osteogenesis+imperfecta+treatment&hl=en&lr=&ie=UTF-8


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Genetic CounselingParents 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 EducationLearn 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 Enco urage the im portance 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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DetectionThe 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


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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


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DiagnosisDiagnosis 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 StatisticsKEY

1st . Fraction noted at birth

In the first year

In pre-school

Early school years

15%

50%

25%

10%


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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.


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John C. HarrisHe 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


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John C. HarrisHarris 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.


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MichelFrench 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.


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UnbreakableSamuel 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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PhysiotherapyExercise or Physical Therapy.Exercise or physical therapy

improving stamina

helping an individual have a more positive outlook on life.

pain can diminish


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Physiotherapy contd

teach proper positioning Posture

exercises to strengthen muscles Pool therapy is one of the best exercise techniques to gently improve muscle strength and reduce pain.


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Pain management

pain can result from multiple fractures vertebral collapse joint deformity osteoarthritis contractures deformity/malalignment of limbs and recurrent abdominal pain .


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Management

focusing on preventing or minimizing deformities, and maximizing the individual's functional ability at home and in the community. positioning aids (to help sit, lie, or stand)

braces and splints (to prevent deformity and promote support or protection )


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Management contd

medications psychological counseling Surgical interventions may be considered to manage the following conditions: fractures bowing of bone

scoliosis - heart problems


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ComplicationsComplications are largely based on the type of OI presenThey are often directly related to the problems with weabones and multiple fractures.

Complications may include:Hearing loss (common in type I and type III) Heart failure (type II)

Respiratory problems and pneumonias due to chest walldeformities Spinal cord or brain stem problems

Permanent deformity


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Prognosis

How well a person does depends on the type of OI they have.

Type I, or mild OI, is the most common form. Persons with this type can live a normal lifespan.

Type II is a severe form that is usually leads to death in the first year of life.


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Prognosis Contd

Type III is also called severe OI. Persons with this type have many fractures starting very early in life and can have severe bone deformities. Many

become wheelchair bound and usually have a somewhat shortened life expectancy.Type IV, or moderately severe OI, is similar to type

I, although persons with type IV often need braces or crutches to walk. Life expectancy is normal or near normal.


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REFERENCES

National Institutes of Health Osteoporosis and Related Bone Diseases National Resource Center

1232 22nd St., NW Washington, DC 20037- 1292 Tel: 800/624-BONE or 202/223-0344 Fax:202/293-2356, TYY: 202/466-4315 http://www.osteo.org E-mail: [email protected]
http://www.osteo.org/mailto:[email protected]:[email protected]://www.osteo.org/


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REFERENCES

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: [email protected] Internet: www.oif.org

Children Brittle Bone Foundation Telephone (866) 694-2223 FAX 262) 947-0724 Postal address 7701 95th Street, Pleasant Prairie, WI 53158


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