17/07/2025
Case Diagnosis: Osteogenesis Imperfecta
A 20yr old presented with blue sclera, triangular face, learning and intellectual disabilities, short height, scoliosis and prominent history of breaking of bones since birth.
Osteogenesis Imperfecta (OI)—also known as “brittle bone disease”—is a genetic disorder that mainly affects the bones, making them fragile and more prone to fractures, often with minimal or no trauma.
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🔬 Cause
OI is usually caused by mutations in the COL1A1 or COL1A2 genes, which affect the production of type I collagen, an essential protein for strong bones.
It is typically inherited in an autosomal dominant pattern, but some rarer forms follow autosomal recessive inheritance.
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🧬 Types (Severity Varies)
There are 8 recognized types (Types I–VIII), with Type I being the mildest and Type II the most severe (often lethal in infancy):
Type I: Mild, most common, few fractures, normal lifespan.
Type II: Most severe, often fatal at birth or shortly after.
Type III: Severe, progressive deformities, short stature.
Type IV: Moderate severity, frequent fractures, mild deformities.
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🧍♂️ Symptoms
Frequent bone fractures
Short stature
Bone deformities (e.g., bowed legs)
Blue sclera (bluish tint to the whites of the eyes)
Hearing loss
Loose joints and muscle weakness
Dental issues (dentinogenesis imperfecta)
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🧪 Diagnosis
Clinical examination and fracture history
Genetic testing
Bone density scans (DEXA)
X-rays to identify bone deformities
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💊 Treatment & Management
There is no cure, but treatment aims to strengthen bones and improve quality of life:
Bisphosphonates (e.g., pamidronate) to increase bone density
Physical therapy to strengthen muscles and prevent fractures
Surgery (e.g., rodding surgery to support long bones)
Mobility aids (wheelchairs, walkers)
Hearing aids if hearing loss occurs
Dental care for tooth abnormalities
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👶 Prognosis
Varies greatly depending on type.
Mild forms allow a normal lifespan with some precautions.
Severe forms can cause significant disability or early death.