Klippel-Feil syndrome

Case contributed by Bassem Marghany
Diagnosis almost certain

Presentation

Neck stiffness since birth.

Patient Data

Age: 20 years
Gender: Female
x-ray

Fusion of multiple cervical vertebrae, namely C2 with C3, C4 with C5 and C6 with C7 vertebrae.

Associated rudimentary or absent intervening intervertebral discs (C2/3, C4/5, C6/7), with reduced heights of C3/4 and to a lesser extent C5/6 discs.

Case Discussion

Klippel-Feil syndrome is more common in females.

Fusion of two or more cervical vertebrae is sufficient to make the diagnosis.

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