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.

Anophthalmia

Absence of the globe or eyeball.


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PMID (PMCID)
6843966
 MIXED_SAMPLE Infant, Newborn
[Report of an atypical case of Goldenhar syndrome].
Fiore C, Santoni G, Lungarotti S, Signorini E.
Ophthalmologica. 1983;186(3):162-8.
The authors report an atypical case of Goldenhar syndrome characterized by hemifacial and cranial hypoplasia associated with severe microtia and anophthalmia on the right side, antimongoloid palpebral fissures, epibulbar epidermoid, corneal anesthesia and preauricular tags on the left side.