Step toward diagnosing a rare condition: Klippel–Feil syndrome

Abstract

Klippel–Feil syndrome (KFS) was first delineated by Maurice Klippel and Andre Feil in 1912 in a patient with congenital fusion of cervical vertebrae. The traditional clinical triad of KF disorder is low posterior hairline, short neck, and restriction of head-and-neck range of motion (ROM). In general, the symptoms and radiographic changes go hand in hand if there is an occurrence of KF disorder. However, the present case has pain in neck and stiffness without any neurological signs correlating with the positive radiological findings of lower cervical spine fusion and dysplasia. A young 35 year old female presented to the outpatient department of physiotherapy with complaints of pain in the neck and morning stiffness. On examination, a clinical triad, i.e., lower posterior hairline, short neck, and restriction of head and neck range of motion were noted. Single-level cervical fusion was reported on radiological investigation. Axial symptoms such as neck pain, neck stiffness, and neck ROM restriction are the predominant symptoms of KFS. The present case fitted into KFS Type II patients' category where patients exhibit a solitary combined cervical portion.