Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome.
case_report · Level V
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- Record sourced from PubMed, PMID 8014978.
- Also identified by PMC identifier 1049754.
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Abstract
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.
Medical subject headings
- Abnormalities, Multiple
- Dysarthria
- Epiphyses
- Spastic Paraplegia, Hereditary