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Review
. 2024 Nov 19;16(11):e73986.
doi: 10.7759/cureus.73986. eCollection 2024 Nov.

Otolaryngological Presentations of Klippel-Feil Syndrome: A Systematic Review

Christopher Stewart  1 , Alex L Otto  2 , Mitchell Fisher  1 , Abbigail Niewchas  1 , Salma Alkhatib  1 , Andrew Simonsen  1 , Randall Hansen  2 , Suporn Sukpraprut-Braaten  3 , Kent McIntire  2
Affiliations
Review

Otolaryngological Presentations of Klippel-Feil Syndrome: A Systematic Review

Christopher Stewart et al. Cureus. .

Erratum in

Abstract

Klippel-Feil syndrome (KFS) is a rare congenital condition characterized by the fusion of cervical vertebrae. It classically presents with a triad of symptoms: limited cervical range of motion, a low posterior hairline, and a short neck. Common otolaryngological manifestations include hearing loss, dysphagia, cleft palate, jaw disorders, thyroid abnormalities, and ear malformations, highlighting the importance of KFS awareness in the field of otolaryngology. Recognizing these symptoms can enhance patient care and outcomes. This systematic review analyzed all case reports on KFS published in the last 10 years on PubMed. Cases were classified using the Samartzis classification, Mallampati score, and Cormack-Lehane grade. Symptoms were then identified, and common imaging techniques were noted to provide clinical recommendations for treating KFS patients. The study found that more severe vertebral fusions are linked to more serious symptoms. Otolaryngologists should consider KFS in their differential diagnosis, especially in patients presenting with neck masses and pain, hearing loss, dysphagia, scoliosis, Sprengel's deformity, or other musculoskeletal abnormalities.

Keywords: hearing loss; klippel-feil syndrome; otolaryngology; rare genetic disorder; spinal cord fusion.

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Conflict of interest statement

Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Diagram
Figure 2
Figure 2. Proportion of Otolaryngological-Related Symptoms
Data is presented as (N, %).
See this image and copyright information in PMC

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