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.

Preauricular skin tag

A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).


Total: 3

                      


(per page)
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.
22714776
FEMALE Child
Do you know this syndrome?
Almeida LM, Diniz Mdos S, Diniz Ldos S.
An Bras Dermatol. 2012;87(3):495-7.
Goldenhar syndrome is a sporadic or inherited genetic syndrome characterized by limbal dermoids, preauricular skin tags and mandibular hypoplasia.
21305808
FEMALE Adult
Goldenhar syndrome: ocular features.
Bhallil S, Benatiya I, El Abdouni O, Mahjoubi B, Hicham T.
Bull Soc Belge Ophtalmol. 2010;(316):17-9.
Goldenhar syndrome is a rare congenital anomaly which consists of a triad of an ocular dermoid cyst, preauricular skin tags and vertebral dysplasia.