Association of myopathy with multiple exostoses and mental retardation: a case report

Brain Dev. 1994 Mar-Apr;16(2):136-8. doi: 10.1016/0387-7604(94)90050-7.

Abstract

We report an 18-year-old male with multiple exostoses, dysmorphic features, mental retardation and myopathy. The case is discussed in the light of previously reported disorders in which multiple exostoses are associated with neurological impairment.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Brain / pathology
  • Exostoses, Multiple Hereditary / diagnostic imaging
  • Exostoses, Multiple Hereditary / genetics*
  • Exostoses, Multiple Hereditary / pathology
  • Humans
  • Humerus / diagnostic imaging
  • Intellectual Disability / diagnostic imaging
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Magnetic Resonance Imaging
  • Male
  • Muscles / pathology
  • Muscular Diseases / diagnostic imaging
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Radiography

Grants and funding