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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Osteogenesis imperfecta

儿科综合

Common symptoms

脊柱后突、耳聋、骨质疏松、骨脆、扁平足、耳硬化症、串珠肋

The pathology of disease

Osteogenesis imperfecta is brittle bone disease; COL1A1/A2; recurrent fractures; blue sclera; hearing loss; short stature; bisphosphonates; orthopedics.

Symptoms

Recurrent fractures with minimal trauma; blue sclera; hearing loss; short stature; infant; wormian bones

Causes

COL1A1/COL1A2 mutation; autosomal dominant; type I collagen defect.

Treatment

Bisphosphonates; orthopedic intramedullary rods; PT; protect from abuse; genetics; supportive

Dept

Orthopedics / genetics / pediatrics.

Warm reminder: Health education reference only; seek care at regular hospital.

Family room

儿科综合Overview of the Western Medical Room