Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.
نویسندگان
چکیده
Male uniovular twins presented at the age of 20 years with spastic paraplegia which had been slowly progressing over the years. Both have skeletal anomalies of their hands and feet with brachydactyly, cone shaped epiphyses, and an abnormal metaphyseal phalangeal pattern profile. In addition, they have a non-specific dysarthria and low-normal intellectual ability.
منابع مشابه
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.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 24 11 شماره
صفحات -
تاریخ انتشار 1987