A morphological and ultrastructural study of bone in osteogenesis imperfecta

A morphological and electron microscopic study of bone from patients with osteogenesis imperfecta (OI) has been performed. Bone from OI patients from various anatomical sites has been compared with that from normal, age-, site-, and sex-matched controls. The morphology of OI bone appeared variable among patients and sites of bone examined. Immature woven bone and a poor lamellar pattern were the significant morphological features and demonstrated that OI could not be characterized on the basis of a single histological pattern. At the ultrastructural level, a number of previously unreported features were evident. Abnormal collagen fibers and an altered mineral composition were found in many OI patients, however, the panoramic heterogeneity between clinical types and indeed within a single clinical type made it difficult to classify OI in this manner. The presence of intermitochondrial inclusions containing calcium and phosphorus and the presence of a stromal calcification in the bone in some OI patients suggested an abnormal mineral formation. Qualitatively, no obvious difference in the number of osteoblasts or osteoclasts was observed. The morphology and ultrastructure of OI bone were good indicators of the disease and serve a role in assessing the progress of a patient through diagnosis and treatment. This report presents new ultrastructural findings in collagen and in mineral formation in OI compared with normal human bone.