Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome.
A girl with slowly progressive difficulty in walking, dysarthria, growth retardation, brachydactyly, and cone shaped epiphyses is described. This constellation of symptoms was described in 1987 by Fitzsimmons and Guilbert. It probably represents a rare mendelian disorder of unknown cause.
Department of Pediatrics, State University Amsterdam, The Netherlands.
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Hennekam
D000015:Abnormalities, Multiple / Q000473:pathology*; D004401:Dysarthria; D004838:Epiphyses / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D015419:Spastic Paraplegia, Hereditary / Q000473:pathology*; D013577:Syndrome