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.

Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).


Total: 3

                      


(per page)
PMID (PMCID)
30134872
(6106733)
MALE Child
Goldenhar syndrome with blepharophimosis and limb deformities: a case report.
Ding X, Wang X, Cao Y, Zhang J, Lin M, Fan X, Li J.
BMC Ophthalmol. 2018;18(1):206.
The patient, diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities, underwent two operations and achieved a satisfactory result.
30134872
(6106733)
MALE Child
Goldenhar syndrome with blepharophimosis and limb deformities: a case report.
Ding X, Wang X, Cao Y, Zhang J, Lin M, Fan X, Li J.
BMC Ophthalmol. 2018;18(1):206.
Here, we describe a patient who was diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities.
30134872
(6106733)
MALE Child
Goldenhar syndrome with blepharophimosis and limb deformities: a case report.
Ding X, Wang X, Cao Y, Zhang J, Lin M, Fan X, Li J.
BMC Ophthalmol. 2018;18(1):206.
The patient was diagnosed with Goldenhar syndrome because his clinical presentations included ocular hypertelorism, hearing loss, and multiple acral joint deformities.