Klippel-Feil syndrome (KFS) is characterized by a classical triad (short neck, low posterior hair line, limitation of neck movements). Segmentation problems of cervical vertebra cause the main clinic in patients, and extraskeletal anomalies are also reported. The aim of this study is to review and emphasize common clinical findings of KFS patients. Between 2000 and 2011, 120 individuals with facial asymmetry and short neck were evaluated. Forty-two adult patients with KFS were included in this study. Patients were assessed for associated skeletal and extraskeletal pathologies. There were 41 male (98%) and 1 female (2%) individuals. Of forty-two patients, thirty-one (n=31; 74%) were classified as type I, nine (n=9; 21%) as type II, and two (n=2; 5%) as type III. Classical clinical triad was detected in all patients. Congenital scoliosis has been observed in all patients except one. Sprengel deformity was observed in 10 individuals (24%). Associated other system disorder ratios were 9.5% for urogenital problems, 23.8% for cardiovascular pathologies and 31% for audiological problems. Spinal and other multi-organ pathologies of patients with KFS may lead to serious problems which may eventually need medical treatment. Detailed assessment for possible systemic disorders and close follow-up may be helpful for KFS patients.
Keywords: Klippel-Feil syndrome, congenital, cervical vertebrae, scoliosis, anomalies, malformations, fusion, classification
