This chapter discusses osteogenesis imperfecta and other disorders with decreased bone density and includes discussion on osteogenesis imperfecta itself, osteogenesis imperfecta (type I), osteogenesis imperfecta (type IIA), osteogenesis imperfecta (type IIC), osteogenesis imperfecta (type III/IIB), osteogenesis imperfecta (type IV), osteogenesis imperfecta (type V), idiopathic juvenile osteoporosis, Bruck syndrome, Cole-Carpenter syndrome, Stüve-Wiedemann syndrome, osteoporosis-pseudoglioma syndrome, spondyloocular dysplasia, geroderma osteodysplasticum, calvarial doughnut lesions-osteoporosis syndrome, and gnathodiaphyseal dysplasia. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
Phenotype and Genotype Analysis of Chinese Patients with Osteogenesis Imperfecta Type V