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Klippel-Feil syndrome

Peter J. Curcione,D.O., Resident , William Mackenzie,M.D., THE ALFRED I. DUPONT INSTITUTE, WILMINGTON, DELAWARE

  • Klippel and Feil published there first work on Klippel- Feil Syndrome in 1912.
  • KFS includes short neck, low hair line, restriction of neck motion and fusion of at least two cervical segments.
  • Original classification as described by Feil is based on the extent of fusion but is not clinically useful.
  • Etiology is unknown. What is known is that there is a failure of the normal segmentation of cervical somites during the third and eighth weeks of gestation.
  • Must always be aware of the associated anomalies that occur in KFS. Some hidden anomalies can be fatal.
CLINICAL FINDINGS:
  • Classic triad of low posterior hair line, short neck and limited neck ROM found in less than 50% of cases. The most consistent finding is limited cervical ROM.
  • Generally flexion and extension are better preserved than side- bending and rotation.
  • Patients have the ability to compensate at the unfused segments. These inter-spaces can become extremely hypermobile.
  • 20% of patients may show facial asymmetry, torticollis and neck webbing.
  • Spregel' s deformity occurs in approximately 35% of cases.
  • Ptosis of the eye, Duane's eye contracture, lateral rectus palsy, facial nervepalsy and cleft palate.
  • Upper extremity abnormalities, ie. syndactyly, hypoplastic thumb, supernumary digits and hypoplasia of the upper extremity.


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