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.
Full text
PDF





Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Grasshoff H., St Braun H., Sakreida M. Beitrag zum Freeman-Sheldon-Syndrom. Beitr Orthop Traumatol. 1978 May;25(5):241–247. [PubMed] [Google Scholar]
- Kousseff B. G., McConnachie P., Hadro T. A. Autosomal recessive type of whistling face syndrome in twins. Pediatrics. 1982 Mar;69(3):328–331. [PubMed] [Google Scholar]
- MacLeod P., Patriquin H. The whistling face syndrome--cranio-carpo-tarsal dysplasia. Report of a case and a survey of the literature. Clin Pediatr (Phila) 1974 Feb;13(2):184–189. doi: 10.1177/000992287401300213. [DOI] [PubMed] [Google Scholar]
- Rinsky L. A., Bleck E. E. Freeman-Sheldon ("whistling face") syndrome. J Bone Joint Surg Am. 1976 Jan;58(1):148–150. [PubMed] [Google Scholar]
- Sauk J. J., Jr, Delaney J. R., Reaume C., Brandjord R., Witkop C. J., Jr Electromyography of oral-facial musculature in craniocarpaltarsal dysplasia (Freeman-Sheldon syndrome). Clin Genet. 1974;6(2):132–137. doi: 10.1111/j.1399-0004.1974.tb00641.x. [DOI] [PubMed] [Google Scholar]
- Sharma R. N., Tandon S. N. "Whistling face" deformity in compound cranio-facio-corporal syndrome. Br Med J. 1970 Oct 3;4(5726):33–33. doi: 10.1136/bmj.4.5726.33. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Weinstein S., Gorlin R. J. Cranio-carop-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations. Am J Dis Child. 1969 Apr;117(4):427–433. doi: 10.1001/archpedi.1969.02100030429007. [DOI] [PubMed] [Google Scholar]
- Wettstein A., Buchinger G., Braun A., von Bazan U. B. A family with whistling-face-syndrome. Hum Genet. 1980;55(2):177–189. doi: 10.1007/BF00291765. [DOI] [PubMed] [Google Scholar]