KLIPPEL-FEIL SYNDROME: A CASE REPORT AND COMPREHENSIVE LITERATURE REVIEW
Keywords:
Klippel-Feil, congenital anomaly, cervical fusionAbstract
DOI: https://doi.org/10.46296/yc.v10i18.0885
Abstract
Klippel-Feil Syndrome is a rare congenital anomaly characterized by the fusion of two or more cervical vertebrae secondary to alterations in embryonic segmentation during the first weeks of fetal development. Clinically, it may present with the classic triad of a short neck, low posterior hairline, and limited cervical mobility; however, this complete presentation is observed in less than half of patients. The disease may be associated with multiple musculoskeletal, neurological, cardiovascular, auditory, and renal abnormalities, making its approach a diagnostic and therapeutic challenge. Diagnosis is based on clinical evaluation and imaging studies, including radiography, computed tomography, and magnetic resonance imaging, which are useful for determining the extent of the abnormalities and detecting neurological complications. Management depends on clinical severity and associated anomalies, ranging from conservative treatment to surgical intervention in cases of instability or neurological compromise. This study presents the case of a pediatric patient in order to emphasize the importance of early recognition and a multidisciplinary approach, which are essential to reduce complications and optimize patients’ quality of life. A descriptive case report study was conducted based on clinical evaluation, laboratory tests, and imaging studies, complemented by a structured literature review.
Keywords: Klippel-Feil, congenital anomaly, cervical fusion.
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