Osteogenesis imperfecta: physiology, manifestations, mobility and treatment

Abstract

This chapter is designed to provide a summary background and introduction to the condition known as Osteogenesis Imperfecta, or OI. Included is an introductory desciption of this group of connective tissue diseases including classification and physiology. The section on clinical manifestations addressed the effects of OI on stature and anthropometry and includes a brief description of dentinogenesis imperfecta, spinal deformities, and soft tissue disorders. The treatment section addresses rodding, bracing, drug therapy, and gene therapy. Because of the importance of mobility in restoring function, special emphasis is placed on current knowledge regarding mobility concepts in OI. Sample gait data from a patient with OI is included to introduce concepts of quantitative motion analysis in understanding more fully the ambulatory kinetics of OI.