Klippel-Feil Syndrome Workup

  • Author: J Andy Sullivan, MD; Chief Editor: Mary Ann E Keenan, MD   more...
 
Updated: Feb 7, 2012
 

Imaging Studies

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

Anteroposterior radiograph of a patient with KlippAnteroposterior 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. 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. This intravenous pyelogram was performed before ulThis 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 or suspected, careful assessment of the craniocervical junction by other imaging modalities is necessary to detect anomalies at that level.[35] 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) 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.

Urologic and/or cardiac evaluation may be indicated based on the results of the imaging studies.

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Other Tests

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

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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, Oklahoma State Medical Association, and Pediatric Orthopaedic Society of North America

Disclosure: Nothing to disclose.

Coauthor(s)

Thomas R Lewis, MD  Assistant Professor, Department of Orthopedic Surgery and Rehabilitation, University of Oklahoma College of Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

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 Royalty Medtronic Vertex; Biomet Royalty Maxan anterior cervical plate; Osprey Royalty Interbody Graft; Osprey Stock Options None; SpineMedica None None; Synthes Consulting fee Other

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

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; DePuySpine 2009 Consulting fee Design of Offset Modification of Expedium

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

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.

References

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Posterior photo of a patient with Klippel-Feil syndrome and an anomaly of the occipitocervical junction. The image shows an elevated left shoulder due to a Sprengel anomaly; a short, webbed neck; and a low hairline.
This patient has Klippel-Feil syndrome and an anomaly of the occipitocervical junction. The patient's flexion and extension after the occipitocervical fusion is demonstrated. His rotation was very limited.
Flexion of the cervical spine in a patient who had an occipitocervical fusion.
Anteroposterior radiograph of a patient with Klippel-Feil syndrome showing multiple congenital anomalies and cervical scoliosis
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 patient with Klippel-Feil syndrome demonstrates congenital scoliosis and a Sprengel deformity.
This radiograph demonstrates an omovertebral bone (marked with 2 arrows). This anomaly limits cervical spine motion.
This photo demonstrates synkinesia. As the patient attempts to oppose the thumb and finger of the right hand, the same movement occurs involuntarily in the left.
This intravenous pyelogram was performed before ultrasound was available to image the kidneys. Note unilateral absence of the left kidney.
Failure of segmentation fusion anomaly in a patient with Klippel-Feil syndrome.
An anomaly of the occipitocervical junction in a patient with Klippel-Feil syndrome. The anomaly was unstable and was fused.
Congenital anomaly of the forearm in a patient with Klippel-Feil syndrome.
Omovertebral bone excision in a patient with Klippel-Feil syndrome.
Omovertebral bone excision in a patient with Klippel-Feil syndrome.
 
 
 
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