OSTEOGENESIS IMPERFECTA

GROUP 3Aguilar, Precious JaneAlcantara, Joanne PaulineBiron, JosephineBoquiren, Maria SophiaFariolen, Alyssa ErikaLocquiao, Isaiah Kean

•Sometimes known as BRITTLE BONE DISEASE or “LOBSTEIN SYNDROME”

• It is a congenital disease that is present at birth.

• It is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone.

• There may be an inability to form normal bone due to a defect in osteoblastic function. With the formation of abnormal bone, there is secondary, though not precisely understood, increase in resorption of bone with a secondary increase in bone turnover.

Osteogenesis imperfecta (OI)

• Congenital bone disorder characterized by brittle bones that are prone to fracture. 

• Literally means "imperfectly formed bone." It is a genetic defect that impairs the body's ability to make strong bones.

• Abnormal collagen composition leads to brittleness.

• Brittle bone disease is caused by a genetic defect that affects the production and formation of type 1 collagen, a protein used to create bone. The defective gene is usually inherited, but in some cases the defect occurs due to a spontaneous mutation.

• It is a genetic disorder, an autosomal dominant defect.

• Most people with OI receive it from a parent but it can be an individual (de novo or “sporadic”) mutation.

• A person with OI has a 50% chance of passing on the gene and the disease to their children.

WHAT IS THE CAUSE?

Types of OITYPE I Most common and mildest type of OI. Bones fracture easily. Most fractures occur before puberty. Normal or near-normal stature. Collagen is of normal quality but is produced in insufficient quantities

Loose joints and muscle weakness Sclera usually have a blue, purple, or gray tint. Brittle teeth possible. Hearing loss possible, often beginning in early 20s or 30s. Bone deformity absent or minimal. Tendency toward spinal curvature.

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.

Type III

• Bones fracture easily. Fractures often present at birth, and x-rays may reveal healed fractures that occurred before birth.

• Collagen improperly formed, enough collagen is made but it is defective

• Fractures often present at birth• Loose joints and poor muscle development in arms

and legs• Barrel-shaped rib cage• Short stature• Most symptoms are the same as Type I• Bone deformity, often severe.• Brittle teeth possible.• Hearing loss possible.• Collagen improperly formed.

TYPE IV Between Type I and Type III in severity

Shorter than average stature.

Sclera are white or near-white (i.e. normal in color).

Mild to moderate bone deformity.

Brittle teeth and hearing loss possible

Type V

Collagen quantity is sufficient but is not of a high enough quality

distinguished histologically by "mesh-like" bone appearance

Clinically similar to type IV in appearance and symptoms of OI

Type VIsame clinical features as Type IV, it is distinguished

histologically by "fish-scale" bone appearanceBone has a distinctive “fish-scale” appearance when

viewed under the microscope

Type VII Some cases of OI Type VII resemble OI Type IV in many

aspects of appearance and symptoms.• Short stature.• Short humerus (arm bone) and short femur (upper leg

bone) • Coxa vera is common (the acutely angled femur head

affects the hip socket).

Type VIIICases of OI Type VIII are similar to OI Types II or III in

appearance and symptoms except for white sclera. Severe growth deficiency.

Clinical Manifestations

•extreme fragility and porosity of the bones, with an attendant proneness to fracture. Fractures heal readily but of similar imperfect quality

• Because type 1 collagen is also found in ligaments, persons with OI often have LOOSE JOINTS (hypermobility) and FLAT FEET.

• Can lead to the development of POOR TEETH.

-blue tint to whites to their eyes (blue sclera)-hearing loss-multiple fractures at birth-pain and bone swelling-prominent eyes

•SYMPTOMS OF MORE SEVERE OI:

1. Bowed legs and arms

2. Kyphosis3. Scoliosis

(S-curve spine)

POSSIBLE COMPLICATIONS• Complications are largely based on the

type of OI present.• They are often directly related to

problems with weak bones and multiple fractures.

• Complications may include:1. Hearing loss (common in type I and

type III)2. Heart failure (type II)3. Respiratory problems and pneumonias

due to chest wall deformities4. Spinal cord or brain stem problems5. Permanent deformity

EXAMINATION AND DIAGNOSTIC TESTS

• OI is usually suspected in children whose bones break with VERY LITTLE FORCE.

• A physical examination may show that the whites of their eyes have a BLUE tint.

• Skin punch biopsy – may be made for definitive diagnosis

• Family members may be given a DNA blood test.Note: If there is a family history of OI, chorionic villus sampling, amniocentess and ultrasound may be done during pregnancy to determine if the

baby has acquired the condition. • F-collagen analysis

X-RAY / RADIOGRAPHIC FEATURES

• Diffuse osteoporosis• Thin, gracile bones

(Types I and IV)• Short, thick extremities

(Types II and III)• Fractures: lower

extremity is the most common

• Pseudoarthrosis• Pelvis narrow: triradiate

• The severe form of type II OI can be seen on ultrasound when fetus is as young as 16 weeks.

Pharmacologic/Nonpharma-cologic

Procedures

•>Bisphosphonates •>Cyclic intravenous (IV) pamidronate•>diet with high calcium, phosphorus

and vit.D•> Physical therapy, in the form of

comprehensive rehabilitation programs,

Medical Surgical Management

•>Bone marrow transplantation

•>intramedullary stabilization with or without corrective osteotomies

Diagnosis: Risk for injury r/t musculo-skeletal impairment secondary to disease process

Planning: After 6 hours of nursing intervention the client will be able to verbalize ways in which injury can be prevented

Intervention:

- refrain from performing non-essential procedures

- keep side rails up and bed in low position

- check for peripheral pulse on the affected area

- Instruct relatives from leaving the client’s bedside

Evaluation: After 5 hours of nursing intervention the client was able to verbalized ways in which injury can be prevented

Diagnosis: Impaired physical mobility r/t BST Planning: After 6 hours of nursing intervention the

patient will be able to demonstrate the use of assistive device such as overhead trapeze and support pillow

Intervention:- Instruct to use the overhead trapeze- Provide footboard- Assist the patient when exercising the

unaffected extremities Evaluation: After 6 hours of nursing intervention

the patient was able to fully maximize body function by demonstrating the use of assistive device such as overhead trapeze and support pillow

THANK YOU FOR LISTENIN

G