The New England Journal of Medicine, 339(14), 986–987 (1998) http://content.nejm.org/cgi/content/extract/339/14/986
Osteogenesis imperfecta is an autosomal dominant disorder of the connective tissue, which is also known as "brittle-bone disease" because it renders those affected susceptible to fractures after minimal trauma. Clinically and biochemically, osteogenesis imperfecta is a generalized disorder of the connective tissue, characterized by various combinations of blue sclerae, triangular facies, macrocephaly, hearing loss, defective dentition, barrel chest, vertebral compression and scoliosis, progressive limb deformity and bowing, joint laxity, and varying degrees of growth retardation.
The currently accepted classification of the disease includes four types defined according to clinical and radiographic features, with some overlap among them. Type I …