Osteogenesis imperfecta Osteogenesis imperfecta (OI) is a r atomic number 18 genetic disorder of collagen synthesis associated with all-inclusive spectrum of musculoskeletal problems, most notably bowing and fractures of the extremities, muscle weakness, lassitude in the ligaments, and spinal deformities.(Binder, 386). Other collagen-containing skeletal tissues, such as the sclerae, the teeth, and the heart valves are as well as affected to a variable quantity degree. OI has a common feature of bony fragility associated with tough formation of collagen by osteoblasts and fibroblasts(Smith, 1983, 13).
This disease, involving defective development of the connective tissues, is ordinarily 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 to be quite broad (Binder, 386). OI is most commonly referred to as brickle bones,” but other names include: fragilitas o...If you want to gravel a full essay, order it on our website:
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