Osteogenesis imperfecta: diagnosis and treatment

• Published in: Journal of the American Academy of Orthopaedic Surgeons Vol. 16; no. 6; p. 356
• Main Authors: Burnei, Gheorghe, Vlad, Costel, Georgescu, Ileana, Gavriliu, Traian Stefan, Dan, Daniela
• Format: Journal Article
• Language: English
• Published: United States 01.06.2008
• Subjects: Bone Density Conservation Agents - therapeutic use; Diagnosis, Differential; Humans; Orthopedic Procedures - methods; Osteogenesis Imperfecta - classification; Osteogenesis Imperfecta - diagnosis; Osteogenesis Imperfecta - therapy
• ISSN: 1067-151X
• DOI: 10.5435/00124635-200806000-00008

Osteogenesis imperfecta is a heritable disorder characterized by extremely fragile bones, blue sclerae, dentinogenesis imperfecta, hearing loss, and scoliosis. In 1979, Sillence classified the condition into four types based on genetic and clinical criteria. Three more classifications have subsequently been added. Diagnosis of osteogenesis imperfecta may be done prenatally (in severe cases), clinically, radiographically, or via biochemical or genetic examination. Medical treatment consists of bisphosphonate use, even in patients younger than age 2 years. Surgical treatment consists of internal splinting of long bones. Research is currently being done on the use of smart intramedullary rods (ie, composed of nitinol shape-memory alloy) for correction of bone deformity and on the use of bone marrow transplantation to increase osteoblast density, thereby reducing fracture frequency.