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Case Reports
. 1987 Nov;24(11):702-5.
doi: 10.1136/jmg.24.11.702.

Spastic paraplegia associated with brachydactyly and cone shaped epiphyses

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Case Reports

Spastic paraplegia associated with brachydactyly and cone shaped epiphyses

J S Fitzsimmons et al. J Med Genet. 1987 Nov.

Abstract

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.

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References

    1. J Neurol Neurosurg Psychiatry. 1981 Oct;44(10):871-83 - PubMed
    1. Acta Neurol Scand. 1980 Jan;61(1):35-41 - PubMed
    1. Radiology. 1972 Jul;104(1):1-11 - PubMed

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