Background: Klippel-Feil syndrome (KFS) is a rare congenital anomaly caused by segmentation failure of cervical somites, leading to vertebral fusion. It is often associated with other malformations, the most frequent musculoskeletal anomaly being Sprengel’s deformity. Case presentation: We describe a 6-year-old boy with shoulder asymmetry and restricted cervical mobility. Clinical assessment revealed elevation of the right scapula. CT imaging demonstrated multiple vertebral fusions involving C2–C3, C7–D1, and D4–D5, with fusion of the spinous processes at C2–C3 and D1–D2. The right scapula was elevated and classified as Rigault grade II Sprengel’s deformity. Neurological evaluation showed no deficits, and no visceral abnormalities were detected. Conclusion: This case highlights the uncommon association between KFS and Sprengel’s deformity. Cross-sectional imaging, especially CT, is essential for defining skeletal abnormalities and planning multidisciplinary management.
Tahiri et al. (Fri,) studied this question.
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