eMedicine Specialties > Orthopedic Surgery > Spine

Klippel-Feil Syndrome: Workup

Author: J Andy Sullivan, MD, Clinical Professor of Pediatric Orthopedics, Department of Orthopedic Surgery, University of Oklahoma College of Medicine
Contributor Information and Disclosures

Updated: Jun 23, 2009

Workup

Imaging Studies

  • Plain radiography is the basis for the diagnosis of Klippel-Feil syndrome (see images below).

      • An anomaly of the occipitocervical junction in a ...

        An anomaly of the occipitocervical junction in a patient with Klippel-Feil syndrome. The anomaly was unstable and was fused.

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        An anomaly of the occipitocervical junction in a ...

        An anomaly of the occipitocervical junction in a patient with Klippel-Feil syndrome. The anomaly was unstable and was fused.


      • Anteroposterior radiograph of a patient with Klip...

        Anteroposterior radiograph of a patient with Klippel-Feil syndrome showing multiple congenital anomalies and cervical scoliosis

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        Anteroposterior radiograph of a patient with Klip...

        Anteroposterior radiograph of a patient with Klippel-Feil syndrome showing multiple congenital anomalies and cervical scoliosis


      • Lateral radiograph of a patient with Klippel-Feil...

        Lateral radiograph of a patient with Klippel-Feil syndrome showing 2 fused segments separated by an open segment.

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        Lateral radiograph of a patient with Klippel-Feil...

        Lateral radiograph of a patient with Klippel-Feil syndrome showing 2 fused segments separated by an open segment.


      • This anteroposterior radiograph of the spine in a...

        This anteroposterior radiograph of the spine in a patient with Klippel-Feil syndrome demonstrates congenital scoliosis and a Sprengel deformity.

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        This anteroposterior radiograph of the spine in a...

        This anteroposterior radiograph of the spine in a patient with Klippel-Feil syndrome demonstrates congenital scoliosis and a Sprengel deformity.


      • This radiograph demonstrates an omovertebral bone...

        This radiograph demonstrates an omovertebral bone (marked with 2 arrows). This anomaly limits cervical spine motion.

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        This radiograph demonstrates an omovertebral bone...

        This radiograph demonstrates an omovertebral bone (marked with 2 arrows). This anomaly limits cervical spine motion.


      • This intravenous pyelogram was performed before u...

        This intravenous pyelogram was performed before ultrasound was available to image the kidneys. Note unilateral absence of the left kidney.

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        This intravenous pyelogram was performed before u...

        This intravenous pyelogram was performed before ultrasound was available to image the kidneys. Note unilateral absence of the left kidney.

  • Initial studies include AP and lateral views of the cervical spine.
  • If anomalies are found, careful assessment of the craniocervical junction is necessary to detect anomalies at that level.30
  • Flexion-extension radiographs are indicated if instability is suspected at the craniocervical junction or if 2 fused segments are separated by an open segment.
  • Plain radiographs of the entire spine must be obtained to detect other spinal anomalies.
  • Examination of the chest is required to rule out involvement of the heart. Examination of the chest wall for possible rib anomalies, such as multiple rib fusions, also is necessary. Rib fusions can be revealed with plain radiography. 
  • CT scanning often is more useful at the spinal level.
    • For patients being evaluated for surgery, CT scanning with 3-dimensional reconstruction can be valuable in assessing anatomy.
    • A unilateral unsegmented bar or cervical stenosis may be revealed on a CT scan, helping the physician to plan the surgical procedure.
    • Three-dimensional reconstruction is particularly helpful in determining the anatomy.
  • Magnetic resonance imaging (MRI)
    • MRI is indicated in patients with neurologic deficits.
    • Flexion-extension MRI may reveal cord compression and is useful in evaluating spinal stenosis.
    • In patients with neurologic deficits, an MRI of the entire spine should be obtained to search for central nervous system anomalies, such as a syringomyelia.
  • Ultrasonography of the kidneys is indicated to screen for renal anomalies.
  • Intravenous pyelography should be performed if further definition of a kidney abnormality is required.

    • Other Tests

    • Because of the high incidence of hearing loss with Klippel-Feil syndrome, an audiologist or otologist should evaluate all children.

    More on Klippel-Feil Syndrome

    Overview: Klippel-Feil Syndrome
    Workup: Klippel-Feil Syndrome
    Treatment: Klippel-Feil Syndrome
    Follow-up: Klippel-Feil Syndrome
    Multimedia: Klippel-Feil Syndrome
    References
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    References

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    29. Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. 2008 Young Investigator Award: The role of congenitally fused cervical segments upon the space available for the cord and associated symptoms in Klippel-Feil patients. Spine. Jun 1 2008;33(13):1442-50. [Medline].

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    41. Moore WB, Matthews TJ, Rabinowitz R. Genitourinary anomalies associated with Klippel-Feil syndrome. J Bone Joint Surg Am. Apr 1975;57(3):355-7. [Medline].

    42. Ohtani I, Dubois CN. Aural abnormalities in Klippel-Feil syndrome. Am J Otol. Nov 1985;6(6):468-71. [Medline].

    43. Palant DI, Carter BL. Klippel-Feil syndrome and deafness. A study with polytomography. Am J Dis Child. Mar 1972;123(3):218-21. [Medline].

    44. Ramsey J, Bliznak J. Klippel-Feil syndrome with renal agenesis and other anomalies. Am J Roentgenol Radium Ther Nucl Med. Nov 1971;113(3):460-3. [Medline].

    45. Stark EW, Borton TE. Hearing loss and the Klippel-Feil syndrome. Am J Dis Child. Mar 1972;123(3):233-5. [Medline].

    46. Stewart EJ, O'Reilly BF. Klippel-Feil syndrome and conductive deafness. J Laryngol Otol. Oct 1989;103(10):947-9. [Medline].

    47. Van Kerckhoven MF, Fabry G. The Klippel-Feil syndrome: a constellation of deformities. Acta Orthop Belg. 1989;55(2):107-18. [Medline].

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    Further Reading

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    Keywords

    Klippel-Feil syndrome, Klippel-Feil disease, Klippel Feil, low hairline, short neck, cervical spine disorder, synkinesia, Klippel Feil syndrome

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    Contributor Information and Disclosures

    Author

    J Andy Sullivan, MD, Clinical Professor of Pediatric Orthopedics, Department of Orthopedic Surgery, University of Oklahoma College of Medicine
    J Andy Sullivan, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, Oklahoma State Medical Association, and Pediatric Orthopaedic Society of North America
    Disclosure: Nothing to disclose.

    Medical Editor

    K Daniel Riew, MD, Mildred B Simon Distinguished Professor of Orthopedic Surgery, Professor of Neurologic Surgery, Washington University School of Medicine; Chief, Cervical Spine Surgery, Department of Orthopedic Surgery, Barnes-Jewish Hospital
    K Daniel Riew, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, AO Foundation, Cervical Spine Research Society, North American Spine Society, and Scoliosis Research Society
    Disclosure: Medtronic Grant/research funds None; Medtronic Royalty Medtronic Vertex; Biomet Royalty Maxan anterior cervical plate; Osprey Royalty Interbody Graft; Osprey Ownership interest Consulting; SpineMedica Consulting fee Consulting

    Pharmacy Editor

    Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
    Disclosure: eMedicine Salary Employment

    Managing Editor

    William O Shaffer, MD, Professor, Vice-Chairman and Residency Program Director, Department of Orthopedic Surgery, University of Kentucky at Lexington
    William O Shaffer, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, International Society for the Study of the Lumbar Spine, Kentucky Medical Association, Kentucky Orthopaedic Society, North American Spine Society, Southern Medical Association, and Southern Orthopaedic Association
    Disclosure: DePuySpine 1997-2007 (not presently) Royalty Consulting; DePuySpine 2002-2007 (closed) Grant/research funds SacroPelvic Instrumentation Biomechanical Study; DePuyBiologics 2005-2008 (closed) Grant/research funds Healos study just closed; No present Industry grants or funds. None None

    CME Editor

    Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
    Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
    Disclosure: Nothing to disclose.

    Chief Editor

    Mary Ann E Keenan, MD, Professor, Vice Chair for Graduate Medical Education, Department of Orthopedic Surgery, University of Pennsylvania School of Medicine; Chief of Neuro-Orthopedics Program, Department of Orthopedic Surgery, Hospital of the University of Pennsylvania
    Mary Ann E Keenan, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, American Society for Surgery of the Hand, and Orthopaedic Rehabilitation Association
    Disclosure: Nothing to disclose.

     
     
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