Otological findings in cervico-oculo-auditory dysplasia

Area of Science:

• Otolaryngology
• Genetics
• Developmental Biology

Background:

• Klippel-Feil syndrome is characterized by cervical spine fusion, often with other congenital anomalies.
• Cervico-ocular-auditory dysplasias represent a subgroup of Klippel-Feil syndrome with specific associated defects.
• Congenital ear malformations can range from external to inner ear structures, impacting hearing.

Observation:

• A patient presented with Klippel-Feil syndrome, including cleft palate, cervical spine, and eye anomalies.
• The case exhibited a rare combination of conductive hearing loss in the right ear (stapes fixation) and perceptive hearing loss in the left ear (cochlear and internal auditory meatus dysplasia).

Findings:

• Successful surgical correction of conductive hearing loss via stapedectomy was achieved in the affected ear.
• Literature review revealed varied explanations for conductive deafness in Klippel-Feil syndrome, including ossicular chain or combined middle/inner ear dysplasias.
• The simultaneous presence of middle ear dysplasia in one ear and inner ear/internal auditory meatus dysplasia in the contralateral ear is exceptionally uncommon.

Implications:

• This case expands the understanding of auditory system involvement in Klippel-Feil syndrome.
• It underscores the importance of thorough audiological evaluation in patients with cervico-ocular-auditory dysplasias.
• The findings suggest potential for targeted surgical interventions in specific types of congenital hearing loss associated with this syndrome.