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Case of the Week

Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada

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January 28, 2008

Klippel-Feil Syndrome

  • Clinical triad (52%): low hairline, limited neck motion (due to any type of cervical vertebral fusions, 2 or more segments)
  • Incidence: 1/42,000, females>males, known since Antiquity (Tutankhamen probably had it)
  • CNS associated lesions: syringomyelia, callosal dysgenesis, meningocele, spinal stenosis, posterior fossa epi-/dermoids
  • Other associations: Sprengel's scapular deformity ('Angel's' scapulae), omovertebral bones, accessory ribs, anomalies of the great vessels, cleft palate

Suggested Reading

Floemer F, Magerkurth O, Jauckus C, et al. Klippel-Feil syndrome and Sprengel deformity combined with an intraspinal course of the left subclavian artery and a bovine aortic arch variant. AJNR Am J Neuroradiol 2008:29:306-7.

Pai VV, Lowe LH, Castillo M, et al. Posterior fossa dermoid cysts in association with Klippel-Feil syndrome: report of three cases. AJNR Am J Neuroradiol 2007;28:1926-28.

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