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.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.