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.
D000328:Adult; D001176:Arthrogryposis / Q000145:classification / Q000235:genetics*; D001706:Biopsy; D003025:Clubfoot / Q000235:genetics*; D003878:Dermatoglyphics; D004576:Electromyography; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D008865:Microstomia / Q000235:genetics*; D009059:Mouth Diseases / Q000235:genetics*; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D013577:Syndrome