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Severe neurological complications in skeletal dysplasias: two case reports
Martijn Weisfelt1, Bwee Tien Poll-The, Raoul C M Hennekam
1Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.
Abstract:
Skeletal dysplasias form a diverse and genetically heterogeneous group of disorders, but also share many clinical and radiographic features. We describe two illustrative cases and provide a short review of the literature on the neurological complications associated with various groups of skeletal dysplasias. These two cases illustrate that management of skeletal dysplasias requires a multidisciplinary approach, aimed at preventing or minimizing medical complications. Follow-up should include regular comprehensive neurological evaluation, as neurological complications can be severe and are often treatable if diagnosed at an early stage.
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