Klippel-Feil Syndrome Workup

Updated: Apr 03, 2019
  • Author: Thomas R Lewis, MD; Chief Editor: Jeffrey A Goldstein, MD  more...
  • Print
Workup

Imaging Studies

Patients with Klippel-Feil syndrome present at different ages with varying clinical manifestations. Indications for workup vary individually.

Plain radiography is the basis for the diagnosis of Klippel-Feil syndrome. Initial studies include anteroposterior (AP) and lateral views of the cervical spine (see the images below).

Anteroposterior radiograph of a patient with Klipp 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.
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.

If anomalies are found or suspected, careful assessment of the craniocervical junction by means of other imaging modalities is necessary to detect anomalies at that level. [41] Flexion-extension radiographs are indicated if instability is suspected at the craniocervical junction or if two 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.

Computed tomography (CT) often is more useful at the spinal level. For patients being evaluated for surgery, CT with three-dimensional (3D) 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. 3D 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, MRI of the entire spine should be done to search for central nervous system anomalies, such as a syringomyelia.

Ultrasonography (US) of the kidneys is indicated to screen for renal anomalies.

Next:

Other Tests

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

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

Previous