Klippel Feil Syndrome with Sprengel Deformity: A Case Report and Literature Review

Klippel Feil Syndrome with Sprengel Deformity: A Case Report and Literature Review

Loading document ...
Loading page ...


Author(s): Jinpei Yang, Pan Zhou, Shuai Zheng, Shuangjiang Liu, Xueshi Li, Genlong Jiao

Download Full PDF Read Complete Article

DOI: 10.18483/ijSci.2530 34 77 6-9 Volume 10 - Dec 2021


Klippel-Feil syndrome (KFS) is a rare disorder characterized by the presence of congenital fusion of at least 2 cervical vertebrae.Patients with KFS often have a variety of congenital malformations, with Sprengel deformity being the most common.The etiology of KFS and Sprengel deformity is still unclear. A thorough evaluation and workup of the patient can help in the diagnosis of the disease. Because of different degrees of pathological changes and deformities, the treatments are quite different among all patients. In this review, we report the treatment course and prognosis of a patient with KFS and Sprengel deformity, aiming to provide a reference for the clinical management of this disease based on our treatment experience and literature review.


Klippel-Feil Syndrome, Sprengel Deformity


  1. M. Klippel, A. Feil, The classic: A Case of Absence of Cervical Vertebrae with the Thoracic Cage Rising to the Base of the Cranium (Cervical Thoracic Cage), Clin Orthop Relat Res (109) (1975) 3-8.
  2. P.D. Pizzutillo, M. Woods, L. Nicholson, G.D. MacEwen, Risk factors in Klippel-Feil syndrome, Spine (Phila Pa 1976) 19(18) (1994) 2110-6.
  3. M.N. Thomsen, U. Schneider, M. Weber, R. Johannisson, F.U. Niethard, Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III, Spine (Phila Pa 1976) 22(4) (1997) 396-401.
  4. J. Gruber, A. Saleh, W. Bakhsh, P.T. Rubery, A. Mesfin, The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients, Spine Deform 6(4) (2018) 448-453.
  5. A.R. Larson, K.D. Josephson, R.M. Pauli, J.M. Opitz, M.S. Williams, Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome?, Am J Med Genet 101(2) (2001) 158-62.
  6. M.F. Van Kerckhoven, G. Fabry, The Klippel-Feil syndrome: a constellation of deformities, Acta Orthop Belg 55(2) (1989) 107-18.
  7. R.N. Hensinger, J.E. Lang, G.D. MacEwen, Klippel-Feil syndrome; a constellation of associated anomalies, J Bone Joint Surg Am 56(6) (1974) 1246-53.
  8. S.M. Theiss, M.D. Smith, R.B. Winter, The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis, Spine (Phila Pa 1976 ) 22(11) (1997) 1219-22.
  9. P. Rouvreau, C. Glorion, J. Langlais, H. Noury, J.C. Pouliquen, Assessment and neurologic involvement of patients with cervical spine congenital synostosis as in Klippel-Feil syndrome: study of 19 cases, J Pediatr Orthop B 7(3) (1998) 179-85.
  10. M.J. Herman, P.D. Pizzutillo, Cervical spine disorders in children, Orthop Clin North Am 30(3) (1999) 457-66, ix.
  11. P.L. Zhou, G.W. Poorman, C. Wang, K.E. Pierce, C.A. Bortz, H. Alas, A.E. Brown, J.C. Tishelman, M.B. Janjua, D. Vasquez-Montes, J. Moon, S.R. Horn, F. Segreto, Y.U. Ihejirika, B.G. Diebo, P.G. Passias, Klippel-Feil: A constellation of diagnoses, a contemporary presentation, and recent national trends, J Craniovertebr Junction Spine 10(3) (2019) 133-138.
  12. E.J. Harvey, M. Bernstein, N.M. Desy, N. Saran, J.A. Ouellet, Sprengel deformity: pathogenesis and management, J Am Acad Orthop Surg 20(3) (2012) 177-86.
  13. D.M. Ross, R.L. Cruess, The surgical correction of congenital elevation of the scapula. A review of seventy-seven cases, Clin Orthop Relat Res (125) (1977) 17-23.
  14. M.E. Cavendish, Congenital elevation of the scapula, J Bone Joint Surg Br 54(3) (1972) 395-408.
  15. C.L. Jeannopoulos, Congenital elevation of the scapula, J Bone Joint Surg Am 34 A(4) (1952) 883-92.
  16. D. Samartzis, J. Herman, J.P. Lubicky, F.H. Shen, Sprengel's deformity in Klippel-Feil syndrome, Spine (Phila Pa 1976) 32(18) (2007) E512-6.
  17. G. Andrault, F. Salmeron, J.M. Laville, Green's surgical procedure in Sprengel's deformity: Cosmetic and functional results, Orthop Traumatol- Sur 95(5) (2009) 330-335.
  18. Y. Mikawa, R. Watanabe, Y. Yamano, Omoclavicular bar in congenital elevation of the scapula. A new finding, Spine (Phila Pa 1976) 16(3) (1991) 376-7.
  19. J.F. Mooney, 3rd, D.R. White, S. Glazier, Previously unreported structure associated with Sprengel deformity, J Pediatr Orthop 29(1) (2009) 26-8.
  20. W.G. Carson, W.W. Lovell, T.E. Whitesides, Jr. Congenital elevation of the scapula. Surgical correction by the Woodward procedure, J Bone Joint Surg Am 63(8) (1981) 1199-207.
  21. M. Bellemans, J. Lamoureux, Results of surgical treatment of Sprengel deformity by a modified Green's procedure, J Pediatr Orthop B 8(3) (1999) 194- 6.
  22. S.J. Leibovic, M.G. Ehrlich, D.J. Zaleske, Sprengel deformity, J Bone Joint Surg Am 72(2) (1990) 192-7.
  23. D.C. Mears, Partial resection of the scapula and a release of the long head of triceps for the management of Sprengel's deformity, J Pediatr Orthop 21( 2) (2001) 242-5.

Cite this Article:

International Journal of Sciences is Open Access Journal.
This article is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) License.
Author(s) retain the copyrights of this article, though, publication rights are with Alkhaer Publications.

Search Articles

Issue June 2023

Volume 12, June 2023

Table of Contents

World-wide Delivery is FREE

Share this Issue with Friends:

Submit your Paper