Goldenhar syndrome

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.

Ectropion

An outward turning (eversion) or rotation of the eyelid margin.


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PMID (PMCID)
26892494
 MALE Infant
A microanatomic abnormality of the lacrimal gland associated with Goldenhar syndrome.
Jakobiec FA, Stagner AM, Katowitz WR, Eagle RC Jr.
Surv Ophthalmol. 2016;61(5):654-63.
A 12-month-old male infant, noted from birth to have a diffuse right temporal epibulbar thickening that encroached on the limbus inferotemporally, was found to manifest stigmata of Goldenhar syndrome, including a limbal dermoid with vellus hairs, esotropia, astigmatism, fullness and ectropion of the lower eyelid, preauricular skin tag, agenesis of the right kidney, and a supernumerary rib.