Osteogenisis Imperfecta (OI)-
Osteogenisis imperfecta (OI) is “a rare genetic disorder of collagen synthesis associated with broad spectrum of musculoskeletal problems, most notably bowing and fractures of the extremities, muscle weakness, ligamentous laxity, and spinal deformities.” (Binder, 386). Other collagen-containing extraskeletal tissues, such as the sclerae, the teeth, and the heart valves are also affected to a variable degree. OI has a “common feature of bony fragility associated with defective formation of collagen by osteoblasts and fibroblasts.” (Smith, 1983, 13) This disease, involving defective development of the connective tissues, is usually the result of the autosomal dominant gene, but can also be the result of the autosomal recessive gene. Spontaneous mutations are common and the clinical presentation of the disease remains OI is most commonly referred to as “brittle bones”, but other names include: fragilitas ossium, hypolasia of the mesenchyme, and osteopsathyrosis. Osteogenisis imperfecta is still not completely understood, and while there have been advances in diagnosing the disease,
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Approximate Word count = 2701
Approximate Pages = 11 (250 words per page double spaced)
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