13. Bond Disorders: Osteogenesis Imperfecta (OI)

Osteogenesis Imperfecta

Inherited “brittle bone disease” due to defective collagen type/ production

Pathophysiology

Defective collagen → impaired bone matrix → weak bones prone to fracture

Signs and symptoms

• Multiple recurrent fractures

• Blue sclera

• hearing loss (ossicle involvement)

• Dentinogenesis imperfecta (Teeth discoloration)

• Short stature

Risk Factors

• Genetic (autosomal dominant)

• Family History of OI

Diagnostics

1. Genetic Testing (COL1A1/ COL1A2 mutation)

2. X-ray: Thin bones, old fractures, deformities

3. Bone Biopsy : rare

4. DXA Scan: Measures bone density

Nursing Management

• Prevent fractures (gentle handling)

• Provide mobility support (Bracing, wheelchairs)

• Support for hearing and dental issues

• Educate family about safety at home/school

Pharmacologic Treatment

1. Bisphosphates : Increase bone density

2. Calcium and Vitamin d: Support bone mineralization

3. Growth Hormone

Surgical Interventions

🔧 Intramedullary Rodding

• Indication: Recurrent long bone fractures and limb deformities in children with moderate to severe OI

• Purpose: Insert rods into long bones (femur, tibia) to prevent future fractures and correct deformity

• Post-op: Early but gentle mobilization, physical therapy, monitor growth and rod integrity

🧱 Fracture Repair / Deformity Correction

• Indication: Complex fractures or bowed limbs

• Purpose: Align and support fragile bones using internal fixation or corrective osteotomy

• Post-op: Extreme care during transfers, high fracture risk during rehab