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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”

an important building block of bone. increase in resorption of bone with a secondary increase in bone turnover. though not precisely understood. • There may be an inability to form normal bone due to a defect in osteoblastic function. . there is secondary. • It is frequently caused by defect in the gene that produces type 1 collagen. With the formation of abnormal bone.• It is a congenital disease that is present at birth.

Osteogenesis imperfecta (OI) .• Congenital bone disorder characterized by brittle bones that are prone to fracture. • 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. but in some cases the defect occurs due to a spontaneous mutation. • Abnormal collagen composition leads to brittleness. The defective gene is usually inherited. • Literally means "imperfectly formed bone." It is a genetic defect that impairs the body's ability to make strong bones.

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• A person with OI has a 50% chance of passing on the gene and the disease to their children. an autosomal dominant defect. WHAT IS THE CAUSE? .• It is a genetic disorder. • Most people with OI receive it from a parent but it can be an individual (de novo or “sporadic”) mutation.

Tendency toward spinal curvature. Most fractures occur before puberty.  Normal or near-normal stature.  Bones fracture easily.  Collagen is of normal quality but is produced in insufficient quantities  Loose joints and muscle weakness  Sclera usually have a blue.  Bone deformity absent or minimal. purple. often beginning in early 20s or 30s.  Hearing loss possible. or gray tint.Types of OI TYPE I  Most common and mildest type of OI. .  Brittle teeth possible.

• Frequently lethal at or shortly after birth. • Numerous fractures and severe bone deformity. • Tinted sclera.TYPE II ◦ Most severe form. often due to respiratory problems. • Small stature with underdeveloped lungs. . • Collagen improperly formed.

often severe. and x-rays may reveal healed fractures that occurred before birth. Fractures often present at birth. • Collagen improperly formed. • Collagen improperly formed. Type III .• Bones fracture easily. 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. • Hearing loss possible. • Brittle teeth possible.

  Mild to moderate bone deformity. Brittle teeth and hearing loss possible . normal in color).   Sclera are white or near-white (i.e.TYPE IV  Between Type I and Type III in severity Shorter than average stature.

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 .

• Short humerus (arm bone) and short femur (upper leg bone) • Coxa vera is common (the acutely angled femur head affects the hip socket). • Short stature. 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. Severe growth deficiency. Type VIII Cases of OI Type VIII are similar to OI Types II or III in appearance and symptoms except for white sclera. .Type VI same clinical features as Type IV.

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

• Because type 1 collagen is also found in ligaments. • Can lead to the development of POOR TEETH. . persons with OI often have LOOSE JOINTS (hypermobility) and FLAT FEET.

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

Bowed legs and arms 2.• SYMPTOMS OF MORE SEVERE OI: 1. Kyphosis 3. Scoliosis (Scurve spine) .

Respiratory problems and pneumonias due to chest wall deformities 4. Spinal cord or brain stem problems 5.POSSIBLE COMPLICATIONS • Complications are largely based on the type of OI present. Permanent deformity . • Complications may include: 1. • They are often directly related to problems with weak bones and multiple fractures. Hearing loss (common in type I and type III) 2. Heart failure (type II) 3.

Note: If there is a family history of OI. • Skin punch biopsy – may be made for definitive diagnosis • Family members may be given a DNA blood test. • A physical examination may show that the whites of their eyes have a BLUE tint.EXAMINATION AND DIAGNOSTIC TESTS • OI is usually suspected in children whose bones break with VERY LITTLE FORCE. amniocentess and ultrasound may be done during pregnancy to determine if the baby has acquired the condition. • F-collagen analysis . chorionic villus sampling.

X-RAY / RADIOGRAPHIC FEATURES . 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.• Diffuse osteoporosis • Thin.

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D • > Physical therapy. phosphorus and vit. in the form of comprehensive rehabilitation programs.Pharmacologic/Nonpharmacologic Procedures • >Bisphosphonates • >Cyclic intravenous (IV) pamidronate • >diet with high calcium. .

Medical Surgical Management • >Bone marrow transplantation • >intramedullary stabilization with or without corrective osteotomies .

check for peripheral pulse on the affected area .refrain from performing non-essential procedures .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: .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 .keep side rails up and bed in low position .

Instruct to use the overhead trapeze .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 .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: .Provide footboard .

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