title: [Schwartz-Jampel syndrome. A case report and review of literature (author's transl)].
abstract: A new case with distinctive features of Schwartz-Jampel syndrome is reported, which makes the patient number 28 after reviewing world literature on the subject. Clinical, genetic, neurophysiological and pathological point of view is studied. The myotonic discharges which the patient presented while resting, did not diminish either with general anesthesia or with curarization, being this the pattern of a true myotonia.
mesh_terms: D002648:Child; D002806:Chondrodysplasia Punctata / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D004576:Electromyography; D006801:Humans; D008297:Male; D008865:Microstomia / Q000235:genetics; D009222:Myotonia / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013577:Syndrome
vernacular_title: Síndrome de Schwartz-Jampel. Aportación de un nuevo caso y revisión de la literatura.