The Goldenhar syndrome – description of two cases

Authors

  • Andrzej Zawora Z Oddziału Noworodków z Intensywną Opieką Medyczną Wojewódzkiego Szpitala Specjalistycznego w Rzeszowie Kierownik: dr med. J. Witalis
  • Artur Mazur Z Oddziału Dziecięcego Szpitala Wojewódzkiego nr 2 w Rzeszowie Kierownik: dr med. J. Rusin https://orcid.org/0000-0001-5393-3515
  • Janusz Witalis Z Oddziału Noworodków z Intensywną Opieką Medyczną Wojewódzkiego Szpitala Specjalistycznego w Rzeszowie Kierownik: dr med. J. Witalis
  • Anna Powrózek Z Oddziału Noworodków z Intensywną Opieką Medyczną Wojewódzkiego Szpitala Specjalistycznego w Rzeszowie Kierownik: dr med. J. Witalis

Keywords:

sydrom Goldenhar, children, newborn children

Abstract

Two cases of children with Goldenhar syndrome, also known as oculo-auriculo-vertbral syndrome recognized in period neonatal period are reported.

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References

Goldenhar, M., 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, 1952.

Burck, U., Genetic aspects of hemifacial microsomia, Hum. Genet 64: 291, 1983.

Tinaz M, Oysu C., Goldenhar's syndrome. Ear Nose Throat, J. 2002 Mar; 81(3): 184.

Van Meter, T.D., Weaver, D., Oculo-auriculo-vertebral spectrum and the CHARGE association:clinical evidence for a common pathogenetic mechanism, Clin.Dysmorph. 5: 187, 1996.

Gorlin, R. J., Branchial arch and oro-acral disorders. In: Gorlin, J. J.; Cohen, M. M., Jr.; Levin, L. S. (eds.), Syndromes of the Head and Neck. 3rd ed. London, Oxford Univ. Press 1990. 641.

Morrison, P. J.; Mulholland, H. C.; Craig, B. G.; Nevin, N.C., Cardiovascular abnormalities in the oculoauriculo-vertebral spectrum (Goldenhar syndrome), Am. J. Med. Genet, 44: 425, 1992.

Derbent, M.; Yilmaz, Z.; Baltaci, V.; Saygili, A.; Varan, B.; Tokel, K., Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am. J. Med. Genet. 116A: 129, 2003.

Connor, J. M.; Fernandez, C. , Genetic aspects of hemifacial microsomia, (Letter) Hum. Genet. 68: 349, 1984.

Kelberman, D.; Tyson, J.; Chandler, D. et al Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome, Hum. Genet. 109: 638, 2001.

Ryan, C. A.; Finer, N. N.; Ives, E., Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly, Am. J. Med. Genet., 29: 755, 1988.

Regenbogen, L.; Godel, V.; Goya, V.; Goodman, R. M., Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia, Clin. Genet. 21: 161, 1982.

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Published

2005-06-30

How to Cite

Zawora, A., Mazur, A., Witalis, J., & Powrózek, A. (2005). The Goldenhar syndrome – description of two cases. European Journal of Clinical and Experimental Medicine, 3(2), 165–167. Retrieved from https://journals.ur.edu.pl/ejcem/article/view/13474

Issue

Vol. 3 No. 2 (2005): Medical Journal of the Rzeszow University

Section

CLINICAL OBSERVATIONS

License

Copyright (c) 2005 Medical Journal of the Rzeszow University

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