Goldenhar Syndrome: A rare case report

Area of Science:

• Genetics and developmental biology
• Craniofacial anomalies
• Medical case reports

Background:

• Goldenhar Syndrome, or oculoauriculovertebral spectrum, is a complex congenital disorder.
• It involves anomalies of the jaw, ear, eye, and vertebrae.
• It represents a spectrum, with hemifacial microsomia as a severe manifestation.

Observation:

• A 26-year-old male presented with unilateral hemifacial microsomia.
• The patient exhibited preauricular ear tags on the affected side.
• Facial examination revealed macrosomia on the right side.

Findings:

• The case illustrates a specific presentation of Goldenhar Syndrome.
• Key features included asymmetric facial development and external ear deformities.
• The findings align with the known spectrum of oculoauriculovertebral anomalies.

Implications:

• This case contributes to the understanding of Goldenhar Syndrome variability.
• It underscores the importance of recognizing diverse clinical presentations.
• Further research into the genetic and developmental underpinnings is warranted.