Literature DB >> 1640431

Spastic disorder in patients with hereditary multiple exostoses, but without spinal cord compression: a new syndrome?

G Hamann1, M Zankl, K Schimrigk, R Kloss.   

Abstract

We describe a 37 year old man with a history of a gait disorder which had been worsening over a period of three years. Clinical examination showed the typical signs of a spastic tetraparesis with increased tone of all the extremities. Sensation, autonomic and cerebellar functions were not disturbed. Multiple exostoses had been present since early childhood, but none had been found in the spine or the cranium to cause the tetraspastic disorder. MRI scan was normal. Pedigree analysis of four generations showed that other family members were affected by both disorders. Chromosomal analysis was normal. We consider this to be a previously unknown hereditary syndrome transmitted as an autosomal dominant and manifesting a combination of spastic tetraparesis and multiple exostoses.

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Mesh:

Year:  1992        PMID: 1640431      PMCID: PMC1016028     

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  5 in total

1.  HEREDITARY MULTIPLE EXOSTOSIS.

Authors:  L SOLOMON
Journal:  Am J Hum Genet       Date:  1964-09       Impact factor: 11.025

Review 2.  Osteochondroma with cervical cord compression in hereditary multiple exostoses.

Authors:  S A Shapiro; T Javid; T Putty
Journal:  Spine (Phila Pa 1976)       Date:  1990-06       Impact factor: 3.468

3.  Hereditary multiple exostoses.

Authors:  R C Hennekam
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

4.  Neurologic complications associated with hereditary deforming chondrodysplasia; review of the literature and a report of two cases occurring in the same family.

Authors:  A SLEPIAN; W B HAMBY
Journal:  J Neurosurg       Date:  1951-09       Impact factor: 5.115

5.  Hereditary multiple exostosis. A comparative human-equine-epidemiologic study.

Authors:  N C Leone; J L Shupe; E J Gardner; E A Millar; A E Olson; E C Phillips
Journal:  J Hered       Date:  1987 May-Jun       Impact factor: 2.645

  5 in total
  1 in total

1.  Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I.

Authors:  Peter Hedera; Paolo Moretti; Jane Howard; Jiali Zhao
Journal:  Brain Sci       Date:  2018-07-19
  1 in total

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