Klippel-Feil syndrome and associated congenital abnormalities: evaluation of 23 cases

Objectives: The purpose of this study was to review adult patients with Klippel-Feil syndrome. Methods: The study included 23 male patients (mean age 20.5 years, range ʹ9 to 27 years) with Klippel-Feil syn¬drome. Besides orthopedic clinical evaluations, all the patients were assessed by anteroposterior and lateral cer¬vical flexion/extension and thoracolumbar radiographies, abdominal ultrasonography, and were subjected to sys¬temic examinations to detect any urological, cardiologi¬cal, otorhinolaryngological, neurological, and psychiatric findings. Temporal computed tomography was performed in seven patients, and cervical magnetic resonance imag¬ing in three patients. Results : Scoliosis, fusion of the cervical vertebrae (between 2-5 vertebrae), low hairline and short neck were found in all the cases. Lumbar fusion was detected in one patient. Other findings included renal agenesis (n=1), dif¬ferent types of hearing loss (n=9), cardiac pathologies (n=5), epilepsy (n=1), and marked (n=1) or mild (n=1) mirror movements. Conclusion: Patients with Klippel-Feil syndrome should be assessed for associated systemic abnormalities besides cervical fusion.