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Classification of Congenitally Fused Cervical Patterns in Klippel-Feil Patients: Epidemiology and Role in the Development of Cervical Spine-Related Symptoms

Samartzis, Dino, Dip EBHC*†; Herman, Jean, RN, MS, MBA; Lubicky, John P., MD§; Shen, Francis H., MD‡∥

doi: 10.1097/01.brs.0000239222.36505.46
Cervical Spine

Study Design. A retrospective cohort and series review.

Objectives. To determine the role of cervical spine fusion patterns on the development of cervical spine-related symptoms (CSS) in patients with Klippel-Feil syndrome (KFS) and evaluate age- and time-dependent factors that may contribute to fused cervical patterns and the development of the CSS.

Summary of Background Data. Although the “hallmark” of KFS is the presence of congenitally fused cervical vertebrae, the epidemiology and role of specific cervical fused patterns are limited. In addition, the incidence of symptoms and various age- and time-dependent factors that are directly attributed to the congenitally fused cervical segments in KFS patients is unknown.

Methods. A radiographic and clinical review of 28 KFS patients at a single institution. Radiographically, Type I patients were defined as having a single congenitally fused cervical segment. Type II patients demonstrated multiple noncontiguous, congenitally fused segments, and Type III patients had multiple contiguous, congenitally fused cervical segments. Clinical records were reviewed for patient demographics, presence and type of symptoms, and clinical course.

Results. Twelve males and 16 females were reviewed for clinical follow-up (mean, 8.5 years) and radiographic assessment (mean, 8.0 years). The mean age at presentation was 7.1 years; mean age of onset of CSS was 11.9 years. Clinically, 64% had no complaints referable to their cervical spine. Radiographically, 25%, 50%, and 25% were Type I, Type II, and Type III, respectively. At final clinical follow-up, 2 patients were myelopathic (Type II and Type III) and 2 were radiculopathic (Type II and Type III). Type III patients were largely asymptomatic but were associated with the highest risk in developing radiculopathy or myelopathy than Type I or Type II patients. Axial symptoms were predominantly associated with Type I patients. Myelopathic patients developed initial CSS earlier (meanage, 10.6 years) than patients with predominant axial (mean age, 13.0 years) or radiculopathic symptoms (mean age, 18.6 years) (P > 0.05). Patients with radiculopathy or myelopathy were diagnosed at a mean age of 17.9 years. Type I patients were predominantly females, while males were largely Type III. Surgery entailed 11% of patients, composed of 2 myelopathic patients (Type II and Type III) and 1 radiculopathic patient (Type II).

Conclusions. In our review, 36% of KFS patients had CSS and the majority had axial symptoms. Axial neck symptoms were highly associated with Type I patients, whereas predominant radicular and myelopathic symptoms occurred in Type II and Type III patients. This classification system has promise for early detection for CSS. Activity modification should be stressed in KFS patients at high risk for neurologic compromise.

Careful attention to the fusion patterns of the subaxial spine in Klippel-Feil patients helps to identify patients at risk for developing clinically significant cervical spine-related symptoms. In most cases, axial symptoms predominate and can be treated conservatively. Patients with long-segment contiguous fusions are at the highest risk for developing radiculopathic and myelopathic symptoms, which may require surgical management. Also, development of fused cervical patterns may be associated with sex type.

From the *Division of Health Sciences, University of Oxford, Oxford, England; the †Graduate Division, Harvard University, Cambridge, MA; the ‡Shriners Hospital for Children, Chicago, IL; the §Department of Orthopaedic Surgery, Indiana University School of Medicine, Indianapolis, IN; and the ∥Department of Orthopaedic Surgery, University of Virginia, Charlottesville, VA.

Acknowledgment date: January 26, 2006. First revision date: May 9, 2006. Acceptance date: May 11, 2006.

The manuscript submitted does not contain information about medical device(s)/drug(s).

No funds were received in support of this work. No benefits in any form have been or will be received from a commercial party related directly or indirectly to the subject of this manuscript.

Address correspondence and reprint requests to Francis H. Shen, MD, Department of Orthopaedic Surgery, University of Virginia, P.O. Box 800159, Charlottesville, VA 22908-0159; E-mail:

© 2006 Lippincott Williams & Wilkins, Inc.