Weisfelt Martijn, Poll-The Bwee Tien, Hennekam Raoul C M
Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.
Eur J Paediatr Neurol. 2006 Sep-Nov;10(5-6):241-3. doi: 10.1016/j.ejpn.2006.08.004. Epub 2006 Oct 10.
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.