Abstract

Congenital and acquired conditions presenting with leg length discrepancy, leg deformity or short stature are not only achallenge for paediatric orthopaedic surgeons in terms of treatment options but may also involve anumber of medical specialties due to the complex clinical manifestations of the diseases. Various surgical treatment options are available for these rare genetic diseases, including bone lengthening and growth inhibition techniques for lower limb discrepancy, as well as guided growth and other surgical procedures for correction of angular deformities. Surgical techniques may be similar, but the treatment plans and specific multidisciplinary approaches may differ. The present report is focused on paediatric orthopaedic and multidisciplinary aspects of the treatment of rare bone diseases. We address the clinical presentation of these diseases, gait and surgical procedures for conditions such as achondroplasia, X‑linked hypophosphatemia and osteogenesis imperfecta. We also provide ashort overview of other rare bone diseases.

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