In a study, researchers examined observational study of Children with Klippel-Feil syndrome (KFS), characterized principally by abnormal fusion of 2 or more cervical vertebrae, may have many additional congenital anomalies. The overall prevalence of otolaryngologic manifestations among patients with KFS has not been previously characterized.

To define the otolaryngologic diagnoses made and procedures performed in 95 patients with KFS, which, to our knowledge, is the largest series of this challenging patient population published to date. For this retrospective review, all patients with KFS who underwent otolaryngology consultation at our institution over a 26-year period  were included.

Patients were identified using International Classification of Diseases, Ninth Revision (ICD-9) codes and were confirmed through individual medical record review. Relevant otolaryngologic diagnoses and procedures were extracted using ICD-9 and Current Procedural Terminology codes, respectively.

Selected demographics included age, sex, number of clinic visits, and number of procedures. Overall, 95 patients with KFS were included in this study (55 males [58%] and 40 females [42%]); mean (range) age at time of presentation to the otorhinolaryngology clinic was 5.8 (birth-23.0) years.

Each patient with KFS averaged 8 visits to the otorhinolaryngology office and 5 otolaryngologic diagnoses. The most common diagnosis was conductive hearing loss (n = 49 [52%]), followed by sensorineural hearing loss (n = 38 [40%]), and dysphagia (n = 37 [39%]). Sixty-two (65%) patients underwent otolaryngologic procedures, with 44 (46%) undergoing multiple procedures.

The most common procedure was tympanostomy tube placement (n = 36 [38%]), followed by office flexible endoscopy (n = 23 [24%]). Twelve of the 20 patients who underwent direct laryngoscopy had documented Cormack-Lehane classification; 5 of 12 patients (42%) had a compromised view (grade 2, 3, or 4) of the larynx.

Three patients required tracheotomies at this institution for airway stabilization purposes; each had severe upper airway obstruction leading to respiratory failure.

Furthermore, studies includes that Patients with KFS require consultation for a variety of otolaryngologic conditions. Among these, hearing loss is the most common, but airway issues related to cervical spine fusion are the most challenging. Formulating an appropriate care plan is paramount, even for routine otolaryngology procedures.