Sections View Full Chapter Figures Tables Videos Full Chapter Figures Tables Videos Supplementary Content +++ Key Features ++ Rare genetic connective tissue disease;estimated incidence is 1 in 12,000–15,000 Characterized by multiple and recurrent fractures There are several forms of osteogenesis imperfecta, designated type I to type XII Types I–V are the result of autosomal dominant mutations Types VI–XII are autosomal recessive Each type is associated with a mutation of a different gene, varying levels of severity, and a range of characteristic features The severe fetal type (osteogenesis imperfecta congenita) is distinguished by multiple intrauterine or perinatal fractures +++ Clinical Findings and Diagnosis ++ Characteristic findings Blue sclerae Thin skin Hyperextensibility of ligaments Otosclerosis with significant hearing loss Hypoplastic and deformed teeth Clinical features lead to diagnosis in the majority of cases Moderately affected children have numerous fractures and exhibit dwarfism as a result of their acquired bone deformities and growth retardation Fractures begin to occur at different times and in variable patterns after the perinatal period, resulting in fewer fractures and deformities relative to severe cases Cortical thickness is reduced in the shafts of the long bones, and accessory skull bones that are completely surrounded by cranial sutures (wormian bones) are present in the skull Cardiovascular and respiratory problems are the most common causes of morbidity and mortality in adulthood +++ Treatment ++ Surgical treatment involves deformity correction of the long bones Multiple intramedullary rods have been used to decrease the incidence of fractures and prevent deformity from fracture malunion Patients are often confined to wheelchairs during adulthood Bisphosphonates have been shown to decrease the incidence of fractures GET ACCESS TO THIS RESOURCE Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Username? Forgot Password? Sign in via OpenAthens Sign in via Shibboleth Get Free Access Through Your Institution Contact your institution's library to ask if they subscribe to McGraw-Hill Medical Products. Access My Subscription GET ACCESS TO THIS RESOURCE Subscription Options Pay Per View Timed Access to all of AccessPediatrics 24 Hour $34.95 (USD) Buy Now 48 Hour $54.95 (USD) Buy Now Best Value AccessPediatrics Full Site: One-Year Individual Subscription $595 USD Buy Now View All Subscription Options