TY - JOUR T1 - Psychosocial aspects of osteogenesis imperfecta JF - Canadian Medical Association Journal JO - CMAJ SP - 977 LP - 981 VL - 135 IS - 9 AU - G. L. Shea-Landry AU - D. E. Cole Y1 - 1986/11/01 UR - http://www.cmaj.ca/content/135/9/977.abstract N2 - Osteogenesis imperfecta is a heterogeneous group of inherited disorders characterized by bone fragility and recurrent fractures. It is currently classified into four types on clinical grounds and appears to arise from different disorders of bone collagen synthesis. The biochemical identification of disturbances in collagen metabolism and the genetic delineation of new mutations of collagen genes have made prenatal diagnosis by molecular methods feasible in some cases. Most people with osteogenesis imperfecta suffer frequent fractures (and sometimes consequent serious disability), for which there are few effective preventive measures. This disorder may have a profound psychosocial influence on patients and their families. In this report the extent of this influence is reviewed and aspects important to the medical community are highlighted; these include the emotional burdens imposed by unfounded suspicions of child abuse, the social and financial costs of repeated hospitalization and immobility, and the frustrations generated by the lack of helpful, practical information for families and health care workers. An important social outcome has been the rise of self-help organizations, exemplified by the Canadian Osteogenesis Imperfecta Society. For Canadian families the society has been an important vehicle for exchange of information and an active, positive response to a lifelong, often severely disabling disorder. ER -