Paediatric Bilateral Femoral Neck Fractures In Osteopetrosis Treated Conservatively
BMJ CASE REPORTS(2020)
Abstract
The treatment of pathological femoral neck fracture in children due to osteopetrosis is not clear as only a few cases have been reported to date. We encountered a 7-year-old osteopetrotic girl with asynchronous bilateral femoral neck fractures. Radiographical assessment showed markedly dense bones with loss of corticomedullary differentiation, sandwich vertebrae and increased density of the ribs. Her mother had a similar radiological picture. Genetic testing showed CLCN-7 mutation which confirmed the diagnosis of autosomal dominant osteopetrosis. As the parents opted against operative treatment, the femoral neck fractures were managed conservatively with skin traction. At the 2-year follow-up, both fractures had united, although with coxa vara, and the patient had excellent functional outcome as she could walk without difficulty, had unrestricted motion at both hips, and there was no pain. Lifestyle modifications were suggested to prevent recurrent fractures and genetic counselling was done.
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Key words
orthopaedics, genetic screening, counselling
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