A case of Klippel–Feil syndrome with adult-onset neurological symptoms

Klippel–Feil syndrome is a rare congenital anomaly characterized by fusion of cervical vertebrae. We describe the case of a 45-year-old female presenting with nonspecific neurological symptoms which was discovered to be due to undiagnosed Klippel–Feil syndrome. This case is unique due to presentation in adulthood as this condition is usually diagnosed in childhood due to visual asymmetries. Additionally, we highlight the value of multimodal imaging and diagnostics when attempting to delineate overlapping pathologies related to the cervical spine.

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Publication Details

Journal
Radiology Case Reports
Published
2026-07-18
DOI
https://doi.org/10.1016/j.radcr.2026.06.132
Primary Topic
Spinal Fractures and Fixation Techniques
Type
article
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article

A case of Klippel–Feil syndrome with adult-onset neurological symptoms

Karthik Ravichandran, Christopher L. Newman, James Wilcox
Radiology Case Reports
Spinal Fractures and Fixation Techniques
article

A case of Klippel–Feil syndrome with adult-onset neurological symptoms

Karthik Ravichandran, Christopher L. Newman, James Wilcox
article en

Abstract

Klippel–Feil syndrome is a rare congenital anomaly characterized by fusion of cervical vertebrae. We describe the case of a 45-year-old female presenting with nonspecific neurological symptoms which was discovered to be due to undiagnosed Klippel–Feil syndrome. This case is unique due to presentation in adulthood as this condition is usually diagnosed in childhood due to visual asymmetries. Additionally, we highlight the value of multimodal imaging and diagnostics when attempting to delineate overlapping pathologies related to the cervical spine.

Radiology Case ReportsVol. 21(10)
United Arab Emirates University (AE), Richard M. Fairbanks Foundation (US), Indiana University – Purdue University Indianapolis (US)
Gender equality
Openalex Percentile: Top 6%
Spinal Fractures and Fixation Techniques
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