Klippel Feil Syndrome

Case Discussion

Recognized female predilection. Result from faulty segmentation along the embryo’s developing axis during the 3rd to 8th weeks of gestation. The classic clinical triad of a short neck, low hairline, and restricted neck motion is considered to be present in <50% of patients with this syndrome. MRI is excellent in demonstrating canal stenosis and cord compression. Disk bulge & associated conditions such as myelomalacia, syringohydromyelia, diastematomyelia, diplomyelia and Chiari I malformation Associated cord abnormalities are seen in 12% of cases

Reference

• 1. Yuksel M, Karabiber H, Yuksel KZ et-al. Diagnostic importance of 3D CT images in Klippel-Feil Syndrome with multiple skeletal anomalies: a case report. Korean J Radiol. 2006;6 (4): 278-81. Free text at pubmed - Pubmed citation • 2. Ulmer JL, Elster AD, Ginsberg LE et-al. Klippel-Feil syndrome: CT and MR of acquired and congenital abnormalities of cervical spine and cord. J Comput Assist Tomogr. 17 (2): 215-24. - Pubmed citation • 3. Ritterbusch JF, McGinty LD, Spar J et-al. Magnetic resonance imaging for stenosis and subluxation in Klippel-Feil syndrome. Spine. 1992;16 (10 Suppl): S539-41. Pubmed citation

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