GROUP 3 Aguilar, Precious Jane Alcantara, Joanne Pauline Biron, Josephine Boquiren, Maria Sophia Fariolen, Alyssa Erika

Locquiao, 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.

 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.

Osteogenesis imperfecta (OI)

 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 OI
TYPE 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.

 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 III

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 VI same clinical features as Type IV, it is distinguished histologically by "fish-scale" bone appearance Bone 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 VIII Cases 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. Kyphosis 3. Scoliosis (Scurve 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 deformities 4. Spinal cord or brain stem problems 5. 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

 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.

X-RAY / RADIOGRAPHIC FEATURES

Pharmacologic/Nonpharmacologic 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 clients 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

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