Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) is a genetic condition in which collagen type-I collagen is defective. This results in brittle bones with a tendency to fracture very easily. There are many genetic types of this disease, few autosomal dominant, others recessive. There are many phenotypes ranging from mild occasional fractures to lethal with intrauterine fractures. Blue sclera and multiple deformities of limbs resulting in functional disabilities, are usual features. Few variants have hearing loss as well. Diagnosis is on clinical grounds, xrays showing multiple deformities and deformities and DEXA scan showing osteopenia and osteoporosis.

There is no cure for this disorder. Management includes enhancement of bone mass by bisphosphanates, prevention of deformities by bracing, encouraging physical activities and surgical intervention to correct limb deformities.


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