Clinical Approach to Patients with Klippel-Feil Syndrome

Objective: Klippel-Feil Syndrome (KFS) is a congenital syndrome that have short neck, fusion in the at least 2 cervical vertebrae and decrease in neck movements in the classic triad. KFS patients may have higher risk for mechanical spinal cord injury because of unstable cervical segments. Patients should be examined extensively, since many anomalies may accompany KFS. In the current article, we aimed to present our cases with KFS with clinical, radiological and genetic results. Methods: In this study, a total of 317 cervical MRIs required by Pediatric Surgery between 2012-2019 years with various indications and 90 cervical CT reports in 2019 were evaluated. Information was collected retrospectively with a file scan. Clinical, radiological, biochemical and genetic evaluation of KFS cases were performed. Results: All of our patients with KFS had Sprengel deformity, cervical fusion anomaly, restricted neck movements, short neck, low hairline and growth retardation. Growth Differentiating Factor 6 (GDF6) gene was negative in all our patients. Conclusions: The necessity of treatment depends more on the pathologies that may be caused by deformity and other systemic findings. The patient should be cautious and avoid heavy exercise because of neurological deficits seen after minor trauma in patients with KFS.