2 days ago
Do you know that a genetic condition was recognized in an EGYPTIAN MUMMY dating from 1000 BC.
Did you know about IVAN THE BONELESS who lived in 9th century Denmark. Prince Ivan who, according to legend, was carried into battle on a shield because he was unable to walk on his soft legs.
This condition was termed "OSTEOGENESIS IMPERFECTA" by W. Vrolik.
Most of the cases are due to mutation in type 1 collagen (COL1A1 or COL1A2) genes
Others can be because of mutations of the cartilage-associated protein (CRTAP) gene or the LEPRE1 gene.
RODDING is used to treat children with moderate to severe osteogenesis imperfecta.
RODDING SURGERY involves internal "splinting" of the long bones by means of the insertion of a metal rod. Under general anesthesia, a long bone may be cut in one or several places, straightened and "threaded" onto a metal rod. The surgery generally requires an incision long enough to expose the bone where it is deformed. Alternatively, small incisions can be made at the end of the deformed bone, and the rod may be introduced through the skin and moved through the bone under x-ray guidance. When the bone is acutely fractured, rodding can often be done without opening the fracture site.