Osteogenesis imperfecta. A clinical and biochemical study of a generalized connective tissue disorder

The clinical features of 62 patients with the diagnosis of osteogenesis imperfecta, a generalized connective tissue disorder, have been reviewed. The structural polymeric collagen of the skin has been examined by biochemical and histological methods in 21 of these patients and in two further patients with osteogensis imperfecta who died soon after birth. The results provide evidence of heterogeneity within this group of patients. Three main types of disorder are recognizable: those patients with dominantly inherited mild bone disease, blue sclerae and low amounts of polymeric collagen; those who occur sporadically, with severe bone disease, normal coloured sclerae and polymeric collagen of reduced stability; and occasional infants with severe bone disease who die at birth or soon after and whose polymeric collagen appears to be abnormal. It is speculated that these differences could be due to distinct abnormalities of collagen metabolism.