Orthopaedic and dental abnormalities in osteogenesis imperfecta: a review of the literature.
Osteogenesis imperfecta is one of the most commonly recognized inheritable disorders of the connective tissue leading to bone fragility. Usually it is associated to a genetic mutation inducing a reduction in collagen quality and entity production. It involves either modification in dentin formation or multiple bone fractures. The authors reviewed the clinical aspects of these disorders, focusing on oral and orthopaedic concerns, especially related to the histological features of the fracture callus, with respect to new trends in pharmacological and surgical treatments of bone fractures. Surgical treatment varies, according to the age of the patient. In children, surgical orthopaedic procedures include multiple osteotomies and the use of telescopic rods. Medical therapy has always to be associated to surgery and is designed to reduce the incidence of fractures, to increase growth velocity and to ally pain in order to improve mobility and independence. Bisphosphonates (BP) are considered potent inhibitors of bone resorption decreasing the osteoclast population and its activity and bone turn over.
L
L
Scaramuzzo
L
L
Raffaelli
M S
MS
Spinelli
G
G
Damis
G
G
Maccauro
P F
PF
Manicone
D001862:Bone Resorption / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D050281:Bones of Lower Extremity / Q000002:abnormalities* / Q000378:metabolism; D002146:Bony Callus / Q000002:abnormalities / Q000378:metabolism / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000235:genetics / Q000378:metabolism; D003804:Dentin; D050723:Fractures, Bone / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy*; D006801:Humans; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy*; D014071:Tooth Abnormalities / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy*
D003094:Collagen