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Goldenhar Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1952, Goldenhar described a pair of monozygotic twins discordant for hemifacial microsomia, mandibular hypoplasia, auricular malformations, and epibulbar dermoids. Gorlin et al. later in 1963 coined the term “oculoauriculovertebral dysplasia” to describe patients with mandibular hypoplasia, microtia, epibulbar dermoids, and vertebral anomalies. The presence of vertebral anomalies and epibulbar dermoids delineates the so-called Goldenhar syndrome. Oculoauriculovertebral spectrum (OAVS) is a relatively common disorder affecting approximately 1 in 5,600 live births.

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  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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Chen, H. (2017). Goldenhar Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_109

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_109

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