J Med Genet 23:231-236 doi:10.1136/jmg.23.3.231
  • Research Article

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


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.