Otolaryngological Presentations of Klippel-Feil Syndrome: A Systematic Review

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2024 Dec 20

PMID 39703307

Authors

Christopher Stewart

Alex L Otto

Mitchell Fisher

Abbigail Niewchas

Salma Alkhatib

Andrew Simonsen

Randall Hansen

Suporn Sukpraprut-Braaten

Kent McIntire

Affiliations

Soon will be listed here.

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.

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