Osteogenesis imperfecta is a connective tissue disease characterized by extremely fragile bones due to an autosomal dominant genetic defect in type 1 collagen production. There are four main types of osteogenesis imperfecta: type I is the most common and the mildest form of the disorder, and is caused by an inadequate production of type 1 collagen. The remaining types are characterized by abnormal type 1 collagen formation. In addition to bone disorders, osteogenesis imperfecta is associated with blue sclera (Figure 1); lax ligaments; hearing impairments; facial abnormalities; short stature; scoliosis or kyphosis; and dental abnormalities.
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