OSTEOGENESIS IMPERFECTA2

8/8/2019 OSTEOGENESIS IMPERFECTA2

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OSTEOGENESISIMPERFECTA

BSN 217- Group 66A


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O STEOGENESIS IMPERFECTA

Also known as Brittle Bone Disease

Osteogenesis imperfecta (OI) is a genetic disordercharacterized by bones that break easily becauseof the less production of collagen

COLLAGEN- is the major protein of the body'sconnective tissue and can be likened to theframework around which a building isconstructed


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O STEOGENESIS IMPERFECTA

CAUSES:dominant genetic defect (known as

autosomal dominant) in the genesresponsible for making collagen.

less collagen than normal, or a poorerquality of collagen than normal, canlead to weak bones that fractureeasily.


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T YPES OF OSTEOGENESIS IMPERFECTA TYPE 1

Sclera (whitesof the eyes)usually have ablue, purple,or gray tint.


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T YPES OF OSTEOGENESIS IMPERFECTA

TYPE 1

Tendencytoward spinalcurvature .Brittle teethpossible.


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TYPE 1

Triangular face.Bones fractureeasily. Mostfractures occurbefore puberty.

Loose joints andmuscle weakness.


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TYPE 1

Bone deformity absent orminimal.

Hearing loss possible,often beginning in early20s or 30s.Collagen structure is

normal, but the amountis less than normal .


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Type II Most severe form.Frequently lethal at or shortly after birth, often

due to respiratory problems.Numerous fractures and severe bone deformity.Small stature with underdeveloped lungs.Tinted sclera.

Collagen improperly formed.


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OSTEOGENESIS IMPERFECTA TYPE 2


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Type III Bones fracture easily. Fractures often present atbirth, and x-rays may reveal healed fractures

that occurred before birth.Short stature.Sclera have a blue, purple, or gray tint.Loose joints and poor muscle development in

arms and legs.Barrel-shaped rib cage.Triangular face.


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Spinal curvature.Respiratory problems possible.Bone deformity, often severe.

Brittle teeth possible.Hearing loss possible.Collagen improperly formed.


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T YPES OF OSTEOGENESIS IMPERFECTA Type IVBetween Type I and Type III in severity.Bones fracture easily. Most fractures occur beforepuberty.Shorter than average stature.Sclera are white or near-white (i.e. normal incolor).

Mild to moderate bone deformity.Tendency toward spinal curvature.Barrel-shaped rib cage.


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OSTEOGENESIS IMPERFECTA TYPE IV


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Type V Clinically similar to Type IV inappearance and symptoms of

OI.

Unusually large calluses(hypertrophic calluses) at thesites of fractures or surgicalprocedures. (A callus is an areaof new bone that is laid downat the fracture site as part of the healing process.)


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Calcification of the membrane betweenthe radius and ulna (the bones of theforearm). This leads to restriction of forearm rotation.White sclera.Normal teeth.

Bone has a mesh-like appearance whenviewed under the microscope.


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TYPE VI

Fish-scale appearance of bone under the

microscope.Extremely rare, moderate in severity, and onlyidentified through bone biopsy.


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TYPE VIISevere or lethal bonedysplasia similar to type

II & III.Small head

circumference,exophthalmos,

white or light blue sclera.


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TYPE VIII

Severe or lethal bone

dysplasia similar to typeII & III. West Africanorigin


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D IAGNOSTIC PROCE D URE

SKIN BIOPSY- to evaluate the amount andstructure of collagen

x -ray - a diagnostic test which uses invisibleelectromagnetic energy beams to produce images of internal tissues, bones, and organs onto film

an e x amination of the ear, nose, and throat (todetect hearing loss)


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D IAGNOSTIC PROCE D URE

Ul trasound Ultrasound examination of thefetus can detect Type II OI at about 14 to16weeks gestation and Type III OI at about 18 to 20weeks. Other forms of OI may be detectable if there are intrauterine fractures.

physical exammedical history, including pregnancy andchildbirth informationfamily history


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SKIN BIOPSY


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TREATMENT

Nonsurgical T r eatm ent

Medica l bisphosphonates

given to the child either by mouth orintravenously, slow down bone resorption.

decreases the number of fractures and bone pain.

must be administered by properly trained doctorsand require close monitoring.


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TREATMENT

Casting, bracing, orsplinting of fractures isnecessary to immobilizethe bone so that healingcan occur. Movementand weight bearing areencouraged as soon aspossible after fractures

to increase mobility anddecrease the risk of future fractures.


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TREATMENT

S urgical T r eatm e ntMeta l rods may beinserted in the long bones

of the arms and legs.( For severe cases. )


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N URSING MANAGEMENT

OSTEOGENESIS IMPERFECTA2

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