Goldenhar Syndrome: An Unusual Case Report


Authors : Vinit kumar Kamble; Sharad Gupta; Reena Yadav; Satbodh Shrestha; Arbind Ray; Sushma Chaudhary

Volume/Issue : Volume 5 - 2020, Issue 12 - December

Google Scholar : http://bitly.ws/9nMw

Scribd : https://bit.ly/3ncSLUV

Abstract : Goldenhar syndrome is a rare and sporadic condition of unknown etiology characterized by a combination of anomalies: oculo-auriculo-vertebral (OAV) dysplasia, auricular appendices, dermal epibulbar cysts and malformation of the ears.Here, we report an unusual case of Goldenhar syndrome with skin lesion suggestive of xeroderma pigmentosa.Patient with Goldenhar syndrome has inconsistent presentation and can affect the various parts of the body.Multidisciplinary approach is mandatory for early diagnosis and managementto avoid from severe complications in later stage of life.

Keywords : Goldenhar syndrome, Oculoauriculovertebral, Preauricular tags, Vertebrae.

Goldenhar syndrome is a rare and sporadic condition of unknown etiology characterized by a combination of anomalies: oculo-auriculo-vertebral (OAV) dysplasia, auricular appendices, dermal epibulbar cysts and malformation of the ears.Here, we report an unusual case of Goldenhar syndrome with skin lesion suggestive of xeroderma pigmentosa.Patient with Goldenhar syndrome has inconsistent presentation and can affect the various parts of the body.Multidisciplinary approach is mandatory for early diagnosis and managementto avoid from severe complications in later stage of life.

Keywords : Goldenhar syndrome, Oculoauriculovertebral, Preauricular tags, Vertebrae.

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