The Klippel-Feil syndrome: a constellation of deformities

The clinical triad, described by Klippel and Feil in 1912 and consisting in a short neck, a low dorsal hairline and restricted neck mobility, is the result of synostosis of several cervical vertebrae, which may or may not be deformed. In recent years, however, even more attention has been given to associated urological, neurological, cardiopulmonary and locomotor deformities, which significantly increase the morbidity. A multidisciplinary approach and treatment are therefore required. We have studied 18 patients and examined 6 additional records. Of these 24 cases, 18 showed associated deformities. In 14 cases surgery was necessary, including cervical fusion for hypermobility in 3 cases, fusion to treat scoliosis in 5 cases, one cervical rib resection and one Sprengel deformity correction. In addition 3 patients needed cardiac surgery and one patient had a ureter reinserted because of vesico-ureteral reflux.