Klippel–Feil syndrome (KFS) is a rare congenital skeletal malformation characterized by the fusion of various cervical and occasionally thoracic and lumbar vertebrae. It may be seen as the fusion between two vertebras of all cervical vertebras, Congenital cervical fusion occurs as a result of failure in normal segmentation of cervical summits. Cause of this failure is unknown and occurs at second-eight weeks of gestation. 25 years old, patient presented to our counseling center with a 4-month history of progressive dysphagia. Ent exam showed a soft retropharyngeal mass displacing the left tonsil measuring a little about 6 cm with no sign of ulceration or local inflammation, a short neck was noted with a limitation of flexion and extension movement and low-lying hairline with a psychomotor retardation; which raises the suspicion of Klippel Feil syndrome undiagnosed. Cervical magnetic resonance imaging (MRI) was done which showed a cervical cystic formation compressive oval well limited with regular contours and fluid content with dark aspect in T1 weighted sequences and bright in T2 weighted sequences with regular wall enhanced after injection of gadolinium measuring 8.2*4.3 cm spread over 8.9 cm high This formation appears to continue with the subarachnoid spaces of the posterior cerebral fossa through the hypoglossal nerve canal with doubt about involvement of the jugular foramen. Thoracic CT scan demonstrated a lateral cystic mass exiting out of the intervertebral foramen of T6-T7 showing the same characteristics as the cervical formation above. Klippel-Feil syndrome is a rare congenital skeletal malformation characterized by fusion of several cervical and sometimes thoracic and lumbar vertebrae, leading to a low hairline and a short neck. The pathological feature is congenital fusion of two or more cervical vertebrae. The fusion is thought to be associated with reduced expression of the Pax gene in sclerotomes during chondrification of the vertebra. Klippel-Feil syndrome is usually diagnosed in childhood. However, associated abnormalities may delay diagnosis. The challenge for the specialist is to recognize concomitant abnormalities and perform the appropriate work-up for the diagnosis of Klippel-Feil syndrome.
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