الفهرس 
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Abstract
For a number of years, osteogenesis imperfecta was thoughtto be a single disease state transmitted as an autosomal dominant with variable penetrance and expressivity. Advances in collagen biochemistry and electron microscopy and recent genetic, epidemiologic and dental studies support the concept that the disease is a genetically heterogeneous one, and rather than a single entity, it should now be considered as a series of syndromes rep¬resenting classes of molecular defects, each with a rea¬sonably well defined clinioal pattern. The essential feature of the histopathology of 01 is a soattered defect of the primitive mesenohYmal oells in whioh there is a failure of maturation into osteoblasts , and henoe, an abnormal or deficient collagen formation that has been demonstrated in bone, s~in, solerae and dentine. The disease is oharacterized olinioally by the so¬called diagnostio triad of blue solerae, imperfeot dentine formation and generalized osteoporosis in a patient with multiple fraotures or bowing of the long bones yet, blue solerae and bowing of long bones may not be present.