Ear malformation in a child with Goldenhar syndrome and its appropriate audiological management

Area of Science:

• Genetics and Developmental Biology
• Otolaryngology
• Pediatric Medicine

Background:

• Goldenhar syndrome is a rare congenital disorder originating from first and second branchial arch developmental defects.
• It manifests with a spectrum of craniofacial, ocular, vertebral, and auricular anomalies.

Observation:

• A 6-year-old girl diagnosed with Goldenhar syndrome presented with right temporal bone hypoplasia and a preauricular tag since birth.
• The patient exhibited multiple defects in the middle and external ear structures.

Findings:

• Audiological treatment was essential for the patient's optimal neurological and speech development.
• The case highlights the significant impact of auditory function on overall development in Goldenhar syndrome.

Implications:

• Early audiological intervention is critical for managing developmental outcomes in Goldenhar syndrome.
• Surgical repair of the ossicular chain may be a future consideration for adolescents with stable Eustachian tube function.