Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?
J Vanĕk, J Janda, V Amblerová, F Losan, J Vanĕk, J Janda, V Amblerová, F Losan
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.
References
- Am J Dis Child. 1969 Apr;117(4):427-33
- Br Med J. 1970 Oct 3;4(5726):33
- Clin Pediatr (Phila). 1974 Feb;13(2):184-9
- Pediatrics. 1982 Mar;69(3):328-31
- J Bone Joint Surg Am. 1976 Jan;58(1):148-50
- Beitr Orthop Traumatol. 1978 May;25(5):241-7
- Hum Genet. 1980;55(2):177-89
- Clin Genet. 1974;6(2):132-7
Source: PubMed