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CASE REPORT
Year : 2020  |  Volume : 13  |  Issue : 2  |  Page : 166-168

Varied ocular manifestations of Goldenhar syndrome


1 DNB Resident, Dr. Baba Saheb Ambedkar Medical College and Hospital, New Delhi, India
2 Head, Department of Ophthalmology, Dr. Baba Saheb Ambedkar Medical College and Hospital, New Delhi, India

Correspondence Address:
Rashi Verma
D-250, 1st Floor, Prashant Vihar, Rohini, New Delhi - 110 085
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/mjdrdypu.mjdrdypu_54_19

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Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, is a rare congenital disorder due to defect in the development of the first and second branchial arches during blastogenesis. This syndrome consists of epibulbar dermoids, eyelid coloboma, auricular abnormalities, preauricular appendages, and mandibular hypoplasia. There can also be associated cleft palate, malocclusion of teeth, and involvement of the axial skeleton (vertebrae and ribs). Congenital heart disease and anomalies of the genitourinary system are some rare manifestations of this syndrome. We report two cases of Goldenhar syndrome with varied ocular manifestations. The first patient was an 18-year-old female who presented with an inferotemporal limbal dermoid with protruding hair involving the inferotemporal cornea. She also had external ear malformation, preauricular skin tag, and mandibular hypoplasia. The second patient was a 3-year-old boy with low intelligence who presented with an upper eyelid coloboma and a temporal limbal dermoid in the left eye with telecanthus and epicanthal folds. There were associated mandibular hypoplasia and preauricular skin tag. Both the patients did not have any vertebral anomaly or congenital heart defect.


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