Goldenhar syndrome with combined external, middle, and inner ear anomalies with aplasia of internal auditory canal: a case report.

BACKGROUND

Goldenhar syndrome, also referred to as oculo-auriculo-vertebral spectrum, is a rare congenital disorder involving malformations of the first and second branchial arches. It is characterized by craniofacial anomalies such as microtia, mandibular hypoplasia, and vertebral defects, with an estimated prevalence ranging from 1 in 3,500 to 1 in 45,000 live births.

CASE DESCRIPTION: This report describes a 5-year-old girl with clinical features consistent with Goldenhar syndrome, including left-sided craniofacial microsomia, grade III microtia, and profound congenital sensorineural hearing loss. Radiologic evaluation demonstrated combined external, middle, and inner ear anomalies with aplasia of the internal auditory canal (IAC). The patient also developed ipsilateral infected first cleft cyst that was refractory to conservative management and progressed to abscess formation requiring surgical intervention. The presence of IAC aplasia carries important therapeutic implications, as it prevents cochlear implantation and necessitates consideration of alternative hearing rehabilitation strategies. Long-term follow-up until the age of 12 years demonstrated stable clinical status, continued unilateral profound hearing loss with contralateral functional hearing, and satisfactory academic progress with appropriate educational support.

CONCLUSIONS

This case highlights a rare constellation of external, middle, and inner ear anomalies with IAC aplasia in Goldenhar syndrome, underscoring the importance of detailed radiologic assessment, recognition of atypical manifestations, and coordinated multidisciplinary management in patients with complex craniofacial syndromes.