FREEMAN-SHELDON SYNDROME (WHISTLING FACE SYNDROME) AND CRANIO-VERTEBRAL JUNCTION MALFORMATION PRODUCING DYSPHAGIA AND WEIGHT-LOSS

The whistling face syndrome has been reported, with complications of t he respiratory system and feeding problems due to microstomia, since 1 938. Dysphagia, however, has not previously been reported as a complic ation of whistling face syndrome. We report a 13-year-old with the whi stling face syndrome and dysphagia of late onset who has the typical w histling face, scoliosis and multiple joint contractures. Dysphagia oc curred as a result of compression at the cervicomedullary junction by a cranio-vertebral junction malformation and impingement by the tip of the odontoid process. This child had undergone multiple surgical proc edures for cleft palate, clubfeet, contractures of the hip and knee an d scoliosis. Halo traction and posterior occipital-cervical decompress ion and fusion successfully treated the dysphagia.