Complex presentation of Klippel-Feil syndrome with scoliosis and Sprengel's deformity: a rare case

Authors

  • Tanya Department of Medicine, Aam Admi Clinic, Pathankot, Punjab, India https://orcid.org/0009-0006-9445-6608
  • Sunil S. Bains Department of Emergency, Subdivisional Hospital, Nangal, Punjab, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20260111

Keywords:

Scoliosis, Vertebrae, Fusion, Congenital, Spine, Screening

Abstract

Klippel-Feil syndrome is a rare congenital anomaly. It is characterized by fusion of two or more cervical vertebrae. In this case report, we have presented a rare case of a nine years old male child suffering from Klippel-Feil syndrome associated with congenital scoliosis and sprengel deformity with no other abnormality in accordance with heart, kidneys, and nervous system. As per the literature review very few cases have been reported on this syndrome thus, this case report is a significant contribution to existing literature.

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References

Menger RP, Rayi A, Notarianni C. Klippel Feil Syndrome. StatPearls: Treasure Island, FL; 2025.

Pledger SR. Cervical Spine Disease. Pledger SR, eds. Ortho Secrets. 3rd ed. Philadelphia, PA: Elsevier; 2003.

Ding L, Wang X, Sun Y, Zhang F, Pan S, Chen X, et al. Prevalence and risk factors of surgical treatment for Klippel-Feil syndrome. Front Surg 2022;9:885989. DOI: https://doi.org/10.3389/fsurg.2022.885989

Gruber J, Saleh A, Bakhsh W, Rubery PT, Mesfin A. The prevalence of Klippel-Feil syndrome: a computed tomography-based analysis of 2,917 patients. Spine Deform 2018;6:448-53. DOI: https://doi.org/10.1016/j.jspd.2017.12.002

Cho TJ, Choi IH, Chung CY, Hwang JK. The Sprengel deformity morphometric analysis using 3D-CT and its clinical relevance. J Bone Joint Surg Br 2000;82:711-8. DOI: https://doi.org/10.1302/0301-620X.82B5.0820711

Samartzis D, Herman J, Lubicky JP, Shen FH. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine 2006;31:E798-804. DOI: https://doi.org/10.1097/01.brs.0000239222.36505.46

Stelzer JW, Flores MA, Mohammad W, Esplin N, Mayl JJ, Wasyliw C. Klippel-Feil syndrome with Sprengel deformity and extensive upper extremity deformity: a case report and literature review. Case Rep Orthop. 2018;2018:5796730. DOI: https://doi.org/10.1155/2018/5796730

Pizzutillo PD, Woods M, Nicholson L, MacEwen GD. Risk factors in Klippel-Feil syndrome. Spine 1994;19:2110-6. DOI: https://doi.org/10.1097/00007632-199409150-00020

Agarwal AK, Goel M, Bajpai J, Shukla S, Sachdeva N. Klippel Feil syndrome: a rare case report. J Orthop Case Rep. 2014;4:53-5. DOI: https://doi.org/10.13070/rs.en.1.858

Mahirogullari M, Ozkan H, Yildirim N, Cilli F, Güdemez E. Klippel-Feil syndrome and associated congenital abnormalities: evaluation of 23 cases. Acta Orthop Traumatol Turc. 2006;40:234-9.

Hammond RFL, Jasionowska S, Awad WI. Aortic stenosis of a bicuspid aortic valve in a patient with Klippel-Feil syndrome: a case report. Eur Heart J Case Rep. 2020;4:1-4. DOI: https://doi.org/10.1093/ehjcr/ytaa037

Shoaib M, Swarup MS, Pradhan G. Klippel-Feil syndrome with multiple skeletal anomalies, Dandy-Walker spectrum, and occipital cephalocele—a rare presentation. Egypt J Radiol Nucl Med. 2021;52:17. DOI: https://doi.org/10.1186/s43055-020-00402-z

Nagib MG, Maxwell RE, Chou SN. Klippel-Feil syndrome in children: clinical features and management. Child Nerv Syst. 1985;1(5):255-63. DOI: https://doi.org/10.1007/BF00272022

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Published

2026-01-27

How to Cite

Tanya, & Bains, S. S. (2026). Complex presentation of Klippel-Feil syndrome with scoliosis and Sprengel’s deformity: a rare case. International Journal of Contemporary Pediatrics, 13(2), 331–333. https://doi.org/10.18203/2349-3291.ijcp20260111

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Section

Case Reports