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.

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Source: PubMed

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