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 ha...

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Bibliographic Details
Published in:Journal of medical genetics 1987-11, Vol.24 (11), p.702-705
Main Authors: Fitzsimmons, J S, Guilbert, P R
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Diseases in Twins
Epiphyses - abnormalities
Genetic Counseling
Humans
Male
Medical sciences
Metacarpus - abnormalities
Muscle Spasticity - genetics
Neurology
Paraplegia - genetics
Risk Factors
Syndrome
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Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.24.11.702