disease)

disease)

Osteogenesis imperfecta (OI) represents a spectrum of condi tions linked by a qualitative and/or quantitative abnormality of collagen production. Most identified mutations a ff ect the collagen genes. The bone may break easily but it heals promptly and well. All structures containing collagen may be a ff ected, accounting for the ligamentous laxity , blue sclerae and poor teeth in some phenotypes. Cyclical bisphosphonate treatment decreases bone resorp tion and turnover. This reduces bone pain and the fracture rate, promoting weight-bearing mobility and bone strength ( Figure 44.12 ). Following fracture, treatment options range from simple casting techniques to mor e specialised surgical procedures to correct/maintain bony alignment while allowing growth. Intramedullary techniques f or stabilisation of fractures or osteotomies are preferred to plate fixation. Rehabilitation should start promptly . Summary box 44.4 Metabolic bone disease /uni25CF /uni25CF /uni25CF /uni25CF /uni25CF /uni25CF Thomas Geo ff rey Barlow , 1915–1975, orthopaedic surgeon, Salford Royal Hospital, Salford, UK. Marius Ortolani , 1904–1987, orthopaedic surgeon, Instituto Provinciale Per L’Infanzia di Ferrara, Italy , described this test in 1937.

Rickets, from nutritional or other causes, is characterised by a failure of bone mineralisation X-linked hypophosphataemic rickets is a dominant condition, affecting boys and girls; in some countries, treatment is with monoclonal FGF23 antibodies In OI: There is defective type I collagen production In severe forms frequent fractures lead to progressive deformity, which in turn increases fracture risk Systemic treatment with bisphosphonates reduces the fracture rate Figure 44.12 Radiograph of a child with osteogenesis imperfecta who has been treated with cyclical bisphosphonates. Multiple growth lines are visible in addition to intramedullary devices in both the femur and tibia.

disease)

Osteogenesis imperfecta (OI) represents a spectrum of condi tions linked by a qualitative and/or quantitative abnormality of collagen production. Most identified mutations a ff ect the collagen genes. The bone may break easily but it heals promptly and well. All structures containing collagen may be a ff ected, accounting for the ligamentous laxity , blue sclerae and poor teeth in some phenotypes. Cyclical bisphosphonate treatment decreases bone resorp tion and turnover. This reduces bone pain and the fracture rate, promoting weight-bearing mobility and bone strength ( Figure 44.12 ). Following fracture, treatment options range from simple casting techniques to mor e specialised surgical procedures to correct/maintain bony alignment while allowing growth. Intramedullary techniques f or stabilisation of fractures or osteotomies are preferred to plate fixation. Rehabilitation should start promptly . Summary box 44.4 Metabolic bone disease /uni25CF /uni25CF /uni25CF /uni25CF /uni25CF /uni25CF Thomas Geo ff rey Barlow , 1915–1975, orthopaedic surgeon, Salford Royal Hospital, Salford, UK. Marius Ortolani , 1904–1987, orthopaedic surgeon, Instituto Provinciale Per L’Infanzia di Ferrara, Italy , described this test in 1937.

Rickets, from nutritional or other causes, is characterised by a failure of bone mineralisation X-linked hypophosphataemic rickets is a dominant condition, affecting boys and girls; in some countries, treatment is with monoclonal FGF23 antibodies In OI: There is defective type I collagen production In severe forms frequent fractures lead to progressive deformity, which in turn increases fracture risk Systemic treatment with bisphosphonates reduces the fracture rate Figure 44.12 Radiograph of a child with osteogenesis imperfecta who has been treated with cyclical bisphosphonates. Multiple growth lines are visible in addition to intramedullary devices in both the femur and tibia.

disease)

Osteogenesis imperfecta (OI) represents a spectrum of condi tions linked by a qualitative and/or quantitative abnormality of collagen production. Most identified mutations a ff ect the collagen genes. The bone may break easily but it heals promptly and well. All structures containing collagen may be a ff ected, accounting for the ligamentous laxity , blue sclerae and poor teeth in some phenotypes. Cyclical bisphosphonate treatment decreases bone resorp tion and turnover. This reduces bone pain and the fracture rate, promoting weight-bearing mobility and bone strength ( Figure 44.12 ). Following fracture, treatment options range from simple casting techniques to mor e specialised surgical procedures to correct/maintain bony alignment while allowing growth. Intramedullary techniques f or stabilisation of fractures or osteotomies are preferred to plate fixation. Rehabilitation should start promptly . Summary box 44.4 Metabolic bone disease /uni25CF /uni25CF /uni25CF /uni25CF /uni25CF /uni25CF Thomas Geo ff rey Barlow , 1915–1975, orthopaedic surgeon, Salford Royal Hospital, Salford, UK. Marius Ortolani , 1904–1987, orthopaedic surgeon, Instituto Provinciale Per L’Infanzia di Ferrara, Italy , described this test in 1937.

Rickets, from nutritional or other causes, is characterised by a failure of bone mineralisation X-linked hypophosphataemic rickets is a dominant condition, affecting boys and girls; in some countries, treatment is with monoclonal FGF23 antibodies In OI: There is defective type I collagen production In severe forms frequent fractures lead to progressive deformity, which in turn increases fracture risk Systemic treatment with bisphosphonates reduces the fracture rate Figure 44.12 Radiograph of a child with osteogenesis imperfecta who has been treated with cyclical bisphosphonates. Multiple growth lines are visible in addition to intramedullary devices in both the femur and tibia.