Klippel-Feil syndrome and associated ear deformities

Area of Science:

• Medical Genetics
• Otolaryngology
• Orthopedics

Background:

• Klippel-Feil syndrome is a congenital disorder characterized by the fusion of cervical vertebrae.
• Clinical features include a short neck, limited neck mobility, and a low posterior hairline.
• Associated anomalies, particularly in the ear, are common but not fully characterized.

Observation:

• This report details five cases of Klippel-Feil syndrome.
• Otolaryngologic and roentgenographic findings were systematically documented.
• Patients presented with varying degrees of cervical vertebral fusion and distinct ear malformations.

Findings:

• While no uniform otologic or audiologic issue was found, a significant tendency for major ear malformations was observed.
• Cervical roentgenograms confirmed vertebral fusion, ranging from partial to complete fusion into bony blocks.
• Approximately one-third of patients with Klippel-Feil syndrome exhibit ear deformities.

Implications:

• The study highlights the frequent association between Klippel-Feil syndrome and significant ear anomalies.
• Early and comprehensive audiometric and otologic assessments are recommended upon diagnosis.
• This underscores the importance of a multidisciplinary approach in managing Klippel-Feil syndrome.