A 2-year-old girl has a smooth, firm, whitish-yellow solid mass straddling the limbus inferotemporally, with hairs visible on its surface. She also has preauricular skin appendages and hemivertebrae on radiography. This constellation is called:

• A Pierre Robin sequence
• B Treacher Collins syndrome
• C Mandibulofacial dysostosis with microtia
• D Goldenhar syndrome ✓

Explanation

Limbal dermoid combined with preauricular appendages and vertebral anomalies defines Goldenhar syndrome, also called oculoauriculovertebral dysplasia. The dermoid is a choristoma containing dermal elements such as hair and sebaceous glands, and may be accompanied by a temporal lipodermoid. Treacher Collins syndrome involves malar and mandibular hypoplasia with down-slanting palpebral fissures but no limbal dermoid, which is the discriminating finding here.

Reference: Parsons' Diseases of the Eye, 23rd ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.