[The Schwartz-Jampel syndrome (myotonia chondrodystrophica)].
Report on three siblings with typical features of Schwartz-Jampel's syndrome which is transmitted by a rare autosomal recessive gene: odd facies, stiff posture, high pitched voice, myotonic reaction, Perthes-like dysplasia of the femoral head. Biochemical and histological findings are minimal and nonspecific.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics; D002648:Child; D003937:Diagnosis, Differential; D005141:Eyelid Diseases / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D005145:Face; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011187:Posture; D011859:Radiography; D013577:Syndrome; D014832:Voice Disorders / Q000235:genetics
Das Syndrom von Schwartz-Jampel (Myotonia chondrodystrophica).