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.

Coloboma

A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.


合計: 5

                       


（表示件数）
PMID (PMCID)
19783022
 MALE Infant
Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature.
Jakobiec FA, Pineda R, Rivera R, Hsu-Winges C, Cherwek D.
Surv Ophthalmol. 2010;55(1):78-84.
We describe a dramatic central epicorneal polypoidal lipodermoid coloboma accompanied by an upper eyelid coloboma that was not associated with Goldenhar syndrome.
17408176
 MALE Infant, Newborn
[Goldenhar syndrome associated to posterior urethral valves].
Palacios A, Pedro Carvalho A, de Castro R, Reis A.
Arch Esp Urol. 2007;60(1):69-71.
Goldenhar syndrome (oculoauriculovertebral dysplasia) is a condition featuring the following triad of anomalies: ocular abnormalities (epibulbar dermoids, coloboma), otic anomalies (low set ears, auricular appendage) and/or vertebral anomalies.
17408176
 MALE Infant, Newborn
[Goldenhar syndrome associated to posterior urethral valves].
Palacios A, Pedro Carvalho A, de Castro R, Reis A.
Arch Esp Urol. 2007;60(1):69-71.
Goldenhar syndrome (oculoauriculovertebral dysplasia) is a condition featuring the following triad of anomalies: ocular abnormalities (epibulbar dermoids, coloboma), otic anomalies (low set ears, auricular appendage) and/or vertebral anomalies.
16877912
 FEMALE Infant
Goldenhar complex with atypical associated anomalies: is the spectrum still widening?
Konas E, Canter HI, Mavili ME.
J Craniofac Surg. 2006;17(4):669-72.
Here we report a patient presenting goldenhar syndrome with accessory auricula, defined as polyotia, coloboma and bifid tongue.
11449108
 MALE Infant
Goldenhar's syndrome: congenital hearing deficit of conductive or sensorineural origin? Temporal bone histopathologic study.
Scholtz AW, Fish JH 3rd, Kammen-Jolly K, Ichiki H, Hussl B, Kreczy A, Schrott-Fischer A.
Otol Neurotol. 2001;22(4):501-5.
Oculoauriculovertebral dysplasia (OAVD) (Goldenhar's syndrome) is a congenital syndrome with ipsilateral deformity of the ear and face, epibulbar lipodermoids, coloboma, and vertebral anomalies.