Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?

J Med Genet. 1986 Jun;23(3):231-6. doi: 10.1136/jmg.23.3.231.


Freeman-Sheldon syndrome was diagnosed in an unrelated adult man and woman, with severe abnormalities of the extremities but only slight anomalies of the face. Electromyography and muscle biopsy showed a myopathy which was classified as a congenital disproportion of fibre type and seemed to be the primary cause of the deformities. This allowed classification of the syndrome as a separate type of myopathic arthrogryposis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arthrogryposis / classification
  • Arthrogryposis / genetics*
  • Biopsy
  • Clubfoot / genetics*
  • Dermatoglyphics
  • Electromyography
  • Female
  • Fingers / abnormalities*
  • Humans
  • Male
  • Microstomia / genetics*
  • Mouth Diseases / genetics*
  • Muscles / pathology
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Syndrome