Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.
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.
Fitzsimmons
J S
JS
Department of Clinical Genetics, City Hospital, Nottingham.
Guilbert
P R
PR
D000328:Adult; D004200:Diseases in Twins; D004838:Epiphyses / Q000002:abnormalities*; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008663:Metacarpus / Q000002:abnormalities*; D009128:Muscle Spasticity / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D012307:Risk Factors; D013577:Syndrome