Klippel-feil syndrome: Ct and mr of acquired and congenital abnormalities of cervical spine and cord

John L. Ulmer, Allen D. Elster, Lawrence E. Ginsberg, Daniel W. Williams

Research output: Contribution to journalArticlepeer-review

Abstract

We reviewed MR and CT myelographic studies in patients with the Klippel-Feil syndrome (KFS) to determine the patterns of associated congenital and acquired abnormalities of the spine and spinal cord and to correlate these radiologic findings with the manner of clinical presentation. Twenty-four consecutive patients with radiologically definite KFS were evaluated by a cross-sectional imaging technique (CT or MR) over a 6 year period. Radiologic images were blindly interpreted by a panel of three experienced neuroradiologists and then correlated with clinical history. Cervical spondylosis or disk herniations were the most common radiologic abnormalities encountered, seen in 10 (42%) of the 24 patients. While some clustering of these secondary degenerative changes occurred at levels immediately adjacent to the fused vertebrae, in most patients spondylotic changes were seen widely distributed throughout the lower cervical region. Coexisting congenital defects of the spinal cord or brain were encountered in seven patients, six of whom were female, consisting of cervical cord dysraphism or diastematomyelia (n=5) and Chiari I malformations (n=2). In only eight patients (33%) had the diagnosis of KFS been suspected clinically prior to imaging by the presence of short neck, limited cervical mobility, or low occipital hairline. In the remaining 16 patients, mostly adolescents or adults being evaluated for cervical sensory or motor syndromes, the diagnosis of KFS was made radiologically at the time of the imaging referral.

Original languageEnglish (US)
Pages (from-to)215-224
Number of pages10
JournalJournal of Computer Assisted Tomography
Volume17
Issue number2
DOIs
StatePublished - 1993
Externally publishedYes

Keywords

  • Anomalies congenital
  • Computed tomography
  • Diastematomyelia
  • Klippel Feil syndrome
  • Magnetic resonance imaging
  • Spine abnormalities

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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