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The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients.
Spine Deform. 2018 Jul - Aug; 6(4):448-453.SD

Abstract

STUDY DESIGN

Cross-sectional study.

OBJECTIVE

To determine the prevalence of KFS in asymptomatic patients in New York State.

SUMMARY OF BACKGROUND DATA

Klippel-Feil syndrome (KFS) is characterized by congenitally fused cervical vertebrae and may not be diagnosed clinically because most patients do not have the classic triad of short neck, low posterior hairline, and decreased neck range of motion. KFS may be associated with abnormalities such as congenital scoliosis and deafness, and patients are at higher risk for neurologic injury following cervical spine trauma. The prevalence of KFS has not been evaluated in a large series but is estimated to occur every 40,000 births.

METHODS

A total of 3,534 cervical computed tomography (CT) scans at the emergency department of a level I trauma center were obtained during a one-year period. Duplicate scans and outside hospital imaging were excluded, resulting in 2,917 cervical CT scans for review. Demographic information was collected, and if KFS was present, level(s) fused, Samartzis classification type, and presence of cervical scoliosis and cervical spine fractures were recorded.

RESULTS

The prevalence of KFS was 0.0058% (1 in 172). Of the 17 subjects with KFS, 8 were female and 9 were male. The most commonly fused levels were C5-C6 and C2-C3. All 17 subjects were classified as Samartzis type I, with a single congenitally fused cervical segment. None of the subjects had cervical scoliosis or cervical spine fractures.

CONCLUSIONS

The prevalence of KFS in our series is much higher than previously described. Because clinical diagnosis may not be reliable, it is likely that this condition is underreported and may only be found incidentally on imaging.

LEVEL OF EVIDENCE

Level III.

Authors+Show Affiliations

Department of Orthopaedic Surgery, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 665, Rochester, NY 14642, USA.Department of Orthopaedic Surgery, Maimonides Medical Center, 4802 10th Ave, Brooklyn, NY 11219, USA.Department of Orthopaedic Surgery, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 665, Rochester, NY 14642, USA.Department of Orthopaedic Surgery, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 665, Rochester, NY 14642, USA.Department of Orthopaedic Surgery, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 665, Rochester, NY 14642, USA. Electronic address: amesfin@gmail.com.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29886918

Citation

Gruber, Jillian, et al. "The Prevalence of Klippel-Feil Syndrome: a Computed Tomography-Based Analysis of 2,917 Patients." Spine Deformity, vol. 6, no. 4, 2018, pp. 448-453.
Gruber J, Saleh A, Bakhsh W, et al. The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients. Spine Deform. 2018;6(4):448-453.
Gruber, J., Saleh, A., Bakhsh, W., Rubery, P. T., & Mesfin, A. (2018). The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients. Spine Deformity, 6(4), 448-453. https://doi.org/10.1016/j.jspd.2017.12.002
Gruber J, et al. The Prevalence of Klippel-Feil Syndrome: a Computed Tomography-Based Analysis of 2,917 Patients. Spine Deform. 2018 Jul - Aug;6(4):448-453. PubMed PMID: 29886918.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients. AU - Gruber,Jillian, AU - Saleh,Ahmed, AU - Bakhsh,Wajeeh, AU - Rubery,Paul T, AU - Mesfin,Addisu, PY - 2017/08/04/received PY - 2017/11/28/revised PY - 2017/12/02/accepted PY - 2018/6/12/entrez PY - 2018/6/12/pubmed PY - 2019/1/11/medline KW - CT KW - Congenital cervical fusion KW - Klippel-Feil syndrome KW - New York state KW - Population study KW - Prevalence SP - 448 EP - 453 JF - Spine deformity JO - Spine Deform VL - 6 IS - 4 N2 - STUDY DESIGN: Cross-sectional study. OBJECTIVE: To determine the prevalence of KFS in asymptomatic patients in New York State. SUMMARY OF BACKGROUND DATA: Klippel-Feil syndrome (KFS) is characterized by congenitally fused cervical vertebrae and may not be diagnosed clinically because most patients do not have the classic triad of short neck, low posterior hairline, and decreased neck range of motion. KFS may be associated with abnormalities such as congenital scoliosis and deafness, and patients are at higher risk for neurologic injury following cervical spine trauma. The prevalence of KFS has not been evaluated in a large series but is estimated to occur every 40,000 births. METHODS: A total of 3,534 cervical computed tomography (CT) scans at the emergency department of a level I trauma center were obtained during a one-year period. Duplicate scans and outside hospital imaging were excluded, resulting in 2,917 cervical CT scans for review. Demographic information was collected, and if KFS was present, level(s) fused, Samartzis classification type, and presence of cervical scoliosis and cervical spine fractures were recorded. RESULTS: The prevalence of KFS was 0.0058% (1 in 172). Of the 17 subjects with KFS, 8 were female and 9 were male. The most commonly fused levels were C5-C6 and C2-C3. All 17 subjects were classified as Samartzis type I, with a single congenitally fused cervical segment. None of the subjects had cervical scoliosis or cervical spine fractures. CONCLUSIONS: The prevalence of KFS in our series is much higher than previously described. Because clinical diagnosis may not be reliable, it is likely that this condition is underreported and may only be found incidentally on imaging. LEVEL OF EVIDENCE: Level III. SN - 2212-1358 UR - https://www.unboundmedicine.com/medline/citation/29886918/The_Prevalence_of_Klippel_Feil_Syndrome:_A_Computed_Tomography_Based_Analysis_of_2917_Patients_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S2212-134X(17)30441-0 DB - PRIME DP - Unbound Medicine ER -