Osteogenesis imperfecta.
In the past 20 years, tremendous strides have been made in our understanding of the biochemical and genetic abnormalities associated with osteogenesis imperfecta (OI). Prenatal diagnostic techniques have allowed early detection of this disorder, particularly in families in which the actual molecular defect is already known. Although medical and surgical management of patients with OI continue to improve, the proper management of such problems as basilar impression still need to be determined. Progress in the treatment of OI at a molecular level is encouraging.
Tosi
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Department of Orthopedic Surgery, Children's National Medical Center, Washington, DC 20010-2970, USA.
D015519:Bone Density; D002648:Child; D002649:Child Abuse / Q000175:diagnosis; D003937:Diagnosis, Differential; D005817:Genetic Counseling; D006801:Humans; D008967:Molecular Biology; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D011296:Prenatal Diagnosis