A 35-year-old patient presents with unilateral facial asymmetry noted since childhood. On examination, there is unilateral facial underdevelopment, microtia, and external ear canal atresia on the affected side. Which congenital condition is most likely associated with this presentation?

• A Hemifacial microsomia ✓
• B Treacher Collins syndrome
• C Goldenhar syndrome
• D Pierre Robin sequence

Explanation

Hemifacial microsomia (craniofacial microsomia, first and second branchial arch syndrome) is characterized by unilateral underdevelopment of the ear (microtia), mandible, and facial soft tissues with facial nerve deficiency. Goldenhar syndrome includes these features plus vertebral anomalies and epibulbar dermoids. Treacher Collins is bilateral. Pierre Robin sequence involves micrognathia, cleft palate, and glossoptosis without the ear and facial nerve findings.

Reference: Scott-Brown's Otorhinolaryngology and Head and Neck Surgery, 8th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.