Osteogenisis Imperfecta (OI)-
Osteogenisis Imperfecta (OI)-
DEFINITION
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
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-1699.
Kasper, Rosemarie. “Osteogenesis Imperfecta: Brittle Bones,
Sturdy Spirit” Independent
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Loeb, Stanley. Diseases Bethelehem: Springhouse, 1993:
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Paterson, Collin R. “Clinical Variability and Life
Expectancy in Osteogenesis Imperfecta”
Clinical Rhumatology 14.2 (1995): 228.
Slagboom, P.E. “Collagen Genes and Skeletal Disorders” The
Lancet 342 (1993):
1045-1046.
Smith, Roger. “Osteogenesis Imperfecta, Non-Accidental
Injury, and Temporary Brittle
Bone Disease” Disease in Childhood 72 (1995):
169-175.
Smith, et al. The Brittle Bone Syndrome London:
Butterworths, 1983.
Smith, et al. The Brittle Bone Syndrome London:
Butterworths, 1983.
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