Musculoskeletal Imaging

Klippel - feil syndrome

(Maurice Klippel, 1858 - 1942, French neurologist and Andr Feil, 20th century, French physician), a congenital disorder characterized by a congenital fusion of two or more cervical vertebrae, usually at the occiput and the first cervical vertebra, at the first and second cervical vertebrae, or at the second and third cervical vertebrae. Most often patients do not have a familial history of the disease. A short neck with restriction of motion and torticollis can be present in some cases, sometimes with neurologic abnormalities.

Among the many associated malformations that have been described in patients with Klippel Feil syndrome are Sprengels deformity, cervical ribs, webbed neck (pterygium colli), hemivertebra, spina bifida, and kyphosis or scoliosis.

On radiographs, the vertebral fusion may be partial or complete and may affect the vertebral bodies, the pedicles, the laminae or the spinous processes (Fig.1). The anteroposterior diameter of the vertebral bodies at the level of an affected discovertebral junction may be smaller than that at the superior and inferior limits of the vertebrae adjacent to uninvolved discs, forming the basis for the wasp waist sign .

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Fig.1

a, b. AP (a) and lateral (b) radiograph of the cervical spine demonstrate congenital fusion of C5, C6 and C7. Fusion of the posterior elements of C2 - C3 also can be observed on the AP film. The large bony protuberance emanating from the left side of the C6 and C7 is a rudimentary omovertebral bone. c. AP radiograph of the chest shows elevation of the left scapula, which is referred to as Sprengel's deformity in this same patient.
Klippel - feil syndrome, Fig.1 (a)
Klippel - feil syndrome, Fig.1 (b)
Klippel - feil syndrome, Fig.1 (c)