alexa Goldenhar Syndrome

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Goldenhar Syndrome

Franceschetti-Goldenhar syndrome or Goldenhar syndrome, also known as facioauriculovertebral spectrum (FAV), first and second branchial arch syndrome, or oculo-auriculovertebral (OAV) spectrum is a rare congenital malformation which encompasses various morphological and functional abnormalities. The syndrome was first recorded by German physician Carl Ferdinand Von Arlt in 1845, however, when Maurice Goldenhar described its various characteristic features in 1952, the credit of discovery went to him. In 1963, Gorlin named this syndrome as oculo auriculovertebral. It consists classically of the triad of (usually unilateral) maldevelopment of the first and second branchial arches, occular dermoids, and vertebral anomalies.

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