Severe neurological complications in skeletal dysplasias: two case reports.
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.
Weisfelt
Martijn
M
Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.
Poll-The
Bwee Tien
BT
Hennekam
Raoul C M
RC
D001848:Bone Diseases, Developmental / Q000473:pathology / Q000503:physiopathology*; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000150:complications; D009422:Nervous System Diseases / Q000209:etiology* / Q000473:pathology; D012196:Review Literature as Topic