Goldenhar syndrome (oculo-auriculo-vertebral dysplasia; goldenhar-gorlin syndrome)

General: Most cases have been sporadic, but cases of autosomal dominant and recessive inheritance have been reported; m 939c23j ale preponderance (60%); present at birth.

Ocular: Anophthalmia; colobomata of choroid, iris, and eyelid; antimongolian slant of lid fissure; epibulbar dermoid or lipodermoids of conjunctiva, cornea, and orbit; tilted optic disk; nerve hypoplasia; microphthalmia; macular heterotopia; tortuous retinal vessels.

Clinical: Frontal bulging of the skull; receding chin; malar hypoplasia; micrognathia and macrostomia; auricular appendices (single or multiple); multiple vertebral anomalies; preauricular fistulas; mental retardation.

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Margolis S, et al. Retinal and optic nerve findings in Goldenhar-Gorlin syndrome. Ophthalmology 1984; 91: 1327-l333.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.