SeminarOsteogenesis imperfecta
Section snippets
Diagnosis
The clinical diagnosis of osteogenesis imperfecta is based mainly on the signs and symptoms outlined above. Traditionally, much emphasis has been laid on the presence or absence of blue sclera and dentinogenesis imperfecta as diagnostic signs of osteogenesis imperfecta. This practice still holds true, but some limitations should be recognised. Dark or bluish sclerae are very typical in healthy infants, and therefore this finding is not of much diagnostic use in this age-group. Dentinogenesis
Pathogenesis
This section focuses on forms of osteogenesis imperfecta that are positive for collagen type 1 mutations, since little is known about the pathogenesis of the other types of the disorder. A collagen type 1 molecule consists of three polypeptide chains (two α 1 and one α 2 chain) that form a triple-helical structure.40 For the three chains to intertwine correctly they must have a glycine residue at every third position. The most typical sequence abnormality associated with osteogenesis imperfecta
Medical management of osteogenesis imperfecta
Physiotherapy, rehabilitation, and orthopaedic surgery are the mainstay of treatment for patients with osteogenesis imperfecta.61, 62 Therapeutic efforts aim to get the most out of mobility and other functional capabilities.61, 63 Physical activity programmes are encouraged—as far as is possible with the raised risk of fracture—to prevent contractures and immobility-induced bone loss.62 Orthoses are used to protect the legs during the early phases of mobilisation.64 Standing and walking can
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