- Goldenhar syndrome
- Facioauriculovertebral sequence
- FAv sequence
- Expanded spectrum of hemifacial microsomia
- Facioauriculovertebral dysplasia
Your QuestionWhen was bilateral Goldenhar named? What case initiated this name? What is the correct percentage of people with Goldenhar and bilateral Goldenhar US and Worldwide?
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Goldenhar M. 1952. Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome dermoide epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum;1: 243–282.
We do not know what would be considered the earliest published report of bilateral Goldenhar sydnrome, however you may be interested in the following articles describing individuals with bilateral involvement:
Mounoud RL, Klein D, Weber F. [A case of Goldenhar syndrome: acute vitamin A intoxication in the mother during pregnancy]. J Genet Hum. 1975 Jun;23(2):135-54.
Thomas P. Goldenhar syndrome and hemifacial microsomia: observations on three patients. Eur J Pediatr. 1980 May;133(3):287-92.
Fiore C, Santoni G, Lungarotti S, Signorini E. [Report of an atypical case of Goldenhar syndrome]. Ophthalmologica. 1983;186(3):162-8.
- Digilio MC et al. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). AJMG. 15 July 2008;146A(14):1815-1819; http://www.ncbi.nlm.nih.gov/pubmed/18553555. Accessed 2/4/2013.