Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Ho F, Sharma R, et al. Goldenhar syndrome. Reference article, Radiopaedia.org (Accessed on 03 May 2024) https://doi.org/10.53347/rID-12373
Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia, is a complex congenital anomaly characterized by abnormalities of the ears, eyes and vertebrae.
The estimated incidence is at 1 in 3000-5000 newborns. There may be a minor male predominance (M:F ~3:2).
The condition is characterized by a number of features which include:
- ear anomalies: commonest feature 4
- hemifacial microsomia
- ocular anomalies
- transverse facial clefts
- asymmetry of skull and spinal anomalies 1 (vertebral segmentation errors)
Genetics
The occurrence is thought to be mostly sporadic. Occasional autosomal dominant and autosomal recessive forms have been described.
Associations
In addition to the main features described above, there may be associated features such as
Antenatal ultrasound
Individual features are non-specific. The syndrome is sometimes considered when there is facial asymmetry or a maxillary cleft present in association with unilateral microphthalmia.
Treatment and prognosis
The overall prognosis is generally favorable except for cosmetic facial problems and handicap from eye and ear anomalies. Intelligence is usually not affected. There is a ~3% for a future pregnancy 6.
History and etymology
It is named after Maurice Goldenhar who initially described the condition in 1952 11.
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1. Anderson PJ, David DJ. Spinal anomalies in Goldenhar syndrome. Cleft Palate Craniofac. J. 2005;42 (5): 477-80. doi:10.1597/04-142051R.1 - Pubmed citation
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2. Castori M, Brancati F, Rinaldi R et-al. Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). Am. J. Med. Genet. A. 2006;140 (14): 1573-9. doi:10.1002/ajmg.a.31290 - Pubmed citation
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3. Digilio MC, Calzolari F, Capolino R et-al. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am. J. Med. Genet. A. 2008;146A (14): 1815-9. doi:10.1002/ajmg.a.32407 - Pubmed citation
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4. Strömland K, Miller M, Sjögreen L et-al. Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am. J. Med. Genet. A. 2007;143A (12): 1317-25. doi:10.1002/ajmg.a.31769 - Pubmed citation
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5. Ignacio rodríguez J, Palacios J, Lapunzina P. Severe axial anomalies in the oculo-auriculo-vertebral (Goldenhar) complex. Am. J. Med. Genet. 1993;47 (1): 69-74. doi:10.1002/ajmg.1320470115 - Pubmed citation
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6. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
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7. Tuna EB, Orino D, Ogawa K et-al. Craniofacial and dental characteristics of Goldenhar syndrome: a report of two cases. J Oral Sci. 2011;53 (1): 121-4. J Oral Sci (link) - Pubmed citation
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8. Volpe P, Gentile M. Three-dimensional diagnosis of Goldenhar syndrome. Ultrasound Obstet Gynecol. 2004;24 (7): 798-800. doi:10.1002/uog.1774 - Pubmed citation
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9. Ghi T, Contro E, Carletti A et-al. Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye. Prenat. Diagn. 2008;28 (4): 362-3. doi:10.1002/pd.1958 - Pubmed citation
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10. Ritchey ML, Norbeck J, Huang C et-al. Urologic manifestations of Goldenhar syndrome. Urology. 1994;43 (1): 88-91. - Pubmed citation
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11. M. Goldenhar. Associations malformatives de l’oeil et de l’oreille, en particulier le syndrome dermoïde epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. Journal de génétique humaine, Genève, 1952, 1: 243-282.
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