Disorders

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 osteoblasts and fibroblasts.” (Smith, 1983, 13) …

…Rebecca B. Child Health Nursing Philadelphia: J.B. Lippincott, 1993: 1696-1699. Kasper, Rosemarie. “Osteogenesis Imperfecta: Brittle Bones, Sturdy Spirit” Independent Living 7 (1992): 50-53. Loeb, Stanley. Diseases Bethelehem: Springhouse, 1993: 754-756. 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.