Congenital Cervical Vertebral Segmentation Failure Presenting as Refractory Torticollis in Infancy: A Case of Klippel-Feil Syndrome

We present a case of a six-month-old female with a five-month history of right-sided torticollis that showed little improvement despite physical therapy.She presented to the emergency department due to parental concern for pneumonia, with congestion and cough without respiratory distress.Physical examination demonstrated leftward rotation and right lateral flexion of the head and cervical spine, consistent with the previously diagnosed right-sided torticollis.Chest radiographs were obtained in the workup for pneumonia and incidentally revealed segmentation anomalies of the cervical and upper thoracic spine as well as multiple bilateral bifid and fused ribs, more pronounced on the right.The radiographic findings were interpreted as highly suggestive of Klippel-Feil syndrome (KFS).In the setting of refractory torticollis and characteristic congenital vertebral abnormalities, the diagnosis of KFS was made.No acute complication requiring immediate intervention was documented.Referral to appropriate specialists was recommended for further evaluation and longitudinal management.This case highlights the importance of maintaining a broad differential diagnosis when evaluating refractory torticollis in infancy.In this patient, congenital vertebral segmentation abnormalities were identified incidentally on imaging obtained during evaluation for an unrelated respiratory concern.Recognition of these abnormalities led to the diagnosis of KFS and referral for further specialist evaluation.