The Schwartz-Jampel syndrome.
Three sibs with severe manifestation of Schwartz-Jampel syndrome are described. All died due to respiratory complications. Early diagnosis might help to prevent this complication. In addition to electromyography, skeletal radiographs can be helpful in establishing the diagnosis. The radiological manifestations of this syndrome are reviewed.
al Gazali
L I
LI
Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain.
D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008171:Lung Diseases / Q000209:etiology; D008865:Microstomia / Q000175:diagnosis* / Q000235:genetics; D009222:Myotonia / Q000175:diagnosis* / Q000235:genetics; D010009:Osteochondrodysplasias / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D013577:Syndrome