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J Am Acad Orthop Surg, Vol 16, No 6, June 2008, 356-366.
© 2008 the American Academy of Orthopaedic Surgeons
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Osteogenesis Imperfecta: Diagnosis and Treatment

Gheorghe Burnei, MD, PhD, Costel Vlad, MD, Ileana Georgescu, MD, Traian Stefan Gavriliu, MD and Daniela Dan, MD

Dr. Burnei is Professor of Paediatric Orthopaedic Surgery, University of Medicine and Pharmacy "Carol Davila," Bucharest, and Head, Department of Paediatric Orthopaedic Surgery, Maria Sklodowska Curie Children’s Emergency Hospital, Bucharest, Romania. Dr. Vlad is Attending Paediatric Orthopaedic Surgeon, Department of Paediatric Orthopaedic Surgery, Maria Sklodowska Curie Children’s Emergency Hospital. Dr. Georgescu is Resident, Department of Paediatric Orthopaedic Surgery, Maria Sklodowska Curie Children’s Emergency Hospital. Dr. Gavriliu is Resident, Department of Paediatric Orthopaedic Surgery, Maria Sklodowska Curie Children’s Emergency Hospital. Dr. Dan is Resident, Department of Paediatric Orthopaedic Surgery, Maria Sklodowska Curie Children’s Emergency Hospital.

None of the following authors or the departments with which they are affiliated has received anything of value from or owns stock in a commercial company or institution related directly or indirectly to the subject of this article: Dr. Burnei, Dr. Vlad, Dr. Georgescu, Dr. Gavriliu, and Dr. Dan.

Reprint requests: Dr. Burnei, Maria Sklodowska Curie Children’s Emergency Hospital, Str Panselelor NR 14, BLOC 134BIS, SC A ETAJ7, AP 41, Sector 4, Bucharest, Romania. E-mail: mscburnei@yahoo.com.

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.






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Copyright © 2008 by the American Academy of Orthopaedic Surgeons.