Klippel-Feil syndrome

Synonyms
Klippel-Feil syndrome
ICD-10
Q76.1
ICD-11
LB73.20

Klippel-Feil syndrome is a rare, congenital malformation syndrome of the cervical spine. The main feature of Klippel-Feil syndrome is fusion of two or more cervical vertebral bodies. The fusion may range from the vertebral bodies to the entire vertebrae, including the posterior elements.

Epidemiology

The incidence of Klippel-Feil syndrome is unknown because it is rare and many patients are asymptomatic[^1].

Etiology

Klippel-Feil syndrome results from abnormal segmentation of the cervical somites between the 3rd and 8th weeks of development[^1].

Imaging features

  • Fusion of two or more cervical Vertebral body.

  • The involved vertebral bodies are flattened, and the associated intervertebral disc spaces are absent or hypoplastic.

  • Hemivertebrae may occur.

  • Neural foramina are smaller in diameter and oval.

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