Abstract
Osteogenesis imperfecta, also called ‘brittle bone syndrome’ 20, is a heritable disorder of connective tissue that causes molecular and biochemical changes in the structure and function of collagen2,4,8,15,23. The overall incidence of osteogenesis imperfecta is between 1:20000 and 1:50000 of the population16,18. The disorder may affect different types of collagen, and so usually presents as a generalized connective tissue disease involving bone, tendon, ligament, dentin, skin, sclerae (Fig. 9.1), cornea and ear16,18,25. Both amount and. structure of collagen type I, the only collagen in adult bone, are abnormal 7, 12; the severity of the disease reflects the degree of structural instability of the collagen helix22. Glycosaminoglycans and other matrix proteins are also involved7. In addition to inadequate bone formation the calcification rate is reduced. Osteogenesis imperfecta results in osteopenia with consequent recurrent fractures. However, the clinical severity is extremely variable and ranges from stillbirth to fractures beginning late in adulthood, so that some of these patients may be incorrectly diagnosed as having primary osteoporosis3. Currently, four main types are recognized, though many patients are difficult to classify16,18,25.
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Bartl, R., Frisch, B. (1993). Osteogenesis imperfecta. In: Biopsy of Bone in Internal Medicine: An Atlas and Sourcebook. Current Histopathology, vol 21. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-2222-1_10
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DOI: https://doi.org/10.1007/978-94-011-2222-1_10
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