Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?. Issue 3 (June 1986)

• Record Type: Journal Article
• Authors: Vanĕk, J; Janda, J; Amblerová, V; Losan, F
• Is Part Of: Journal of medical genetics. Volume 23:Issue 3(1986)
• Page Start: 231
• Page End: 236
• Publication Date: 1986-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.23.3.231
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.