A Consultation for Pediatric Neck Mass Resulting in a Rare Diagnosis of Klippel-Feil Syndrome: A Case Report.

Klippel-Feil syndrome (KFS) is a rare congenital cervical vertebrae fusion syndrome characterized by the clinical triad of low posterior hairline, limited head and neck range of motion, and short neck. The gene defects described with this syndrome are involved in the maturation and differentiation of bone during embryological development. As such, related defects seen in patients with KFS include genitourinary anomalies, cardiac defects, neurological abnormalities, and other musculoskeletal anomalies. Patients with this syndrome should be worked up for these related malformations, evaluated for risk of comorbidities, and educated on avoiding contact sports or activities that may put the cervical spine at risk for trauma. The case report here describes a pediatric patient who presents to the outpatient otolaryngologist complaining of a pediatric neck mass. Workup of the mass, including imaging, revealed a diagnosis of Klippel-Feil syndrome. The presentation of this case highlights the importance of maintaining KFS on the list of possible diagnoses along with scoliosis, synostosis syndrome, and Wildervanck syndrome for the otolaryngologist working up a neck mass and the role making an early diagnosis can have in preventing patient morbidity and mortality.