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

The purpose of this study was to review adult patients with Klippel-Feil syndrome.

The study included 23 male patients (mean age 20.5 years, range 19 to 27 years) with Klippel-Feil syndrome. Besides orthopedic clinical evaluation, all the patients were assessed by anteroposterior and lateral cervical flexion/extension and thoracolumbar radiographies, abdominal ultrasonography, and were subjected to systemic examinations to detect any urological, cardiological, otorhinolaryngological, neurological, and psychiatric findings. Temporal computed tomography was performed in seven patients, and cervical magnetic resonance imaging in three patients.

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), different types of hearing loss (n=9), cardiac pathologies (n=5), epilepsy (n=1), and marked (n=1) or mild (n=1) mirror movements.

Patients with Klippel-Feil syndrome should be assessed for associated systemic abnormalities besides cervical fusion.