Abstract

Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS) is characterized by preauricular skin tags, microtia, facial asymmetry, ocular abnormalities and vertebral anomalies of different size and shape. The presence of anomalies of the ear is necessary for diagnosis. In addition to craniofacial anomalies, there may be cardiac, genitourinary and central nervous system defects. This syndrome is usually thought to be caused by abnormalities of the first and second branchial arches. The phenotypical findings of this syndrome are variable due to heterogenous etiology. We report here a newborn with OAVS presented with left hemifacial microsomia, hypoplasia of depressor anguli oris muscle, microtia, deafness and ventricular septal defect and diognosed OAVS

Keywords: Goldenhar Syndrome, craniofacial abnormalities, facial asymmetry

References

  1. Hartsfield JK. Review of the etiologic heterogeneity of the oculo- auriculo-vertebral spectrum (Hemifacial Microsomia). Orthod Craniofac Res 2007;10(3):121-8.
  2. Lima Mde D, Marques YM, Alves Sde M Jr, Ortega KL, Soa- res MM, Magalhães MH. Distraction osteogenesis in Goldenhar syndrome:case report and 8-year follow-up. Med Oral Patol Oral Cir Bucal 2007;12(7):528-31.
  3. Verona LL, Dauian NG, Pavarina LP, Ferreira CH, Melo DG. Mo- nozygotic twins discordant for Goldenhar syndrome. J Pediatr (Rio J) 2006;82(1):75-8.
  4. Pinheiro AL, Araujo LC, Oliveira SB, Sampaio MC, Freitas AC. Goldenhar’s syndrome-Case report. Braz Dent J 2003;14(1):67-70.
  5. Jena AK, Duggal R. Atypical goldenhar syndrome: a case report. J Clin Pediatr Dent 2006;31(2):118-22.
  6. Ünal S, Alpan N, Asma M, Ceylaner S. Oculo- Auriculo - Verteb- ral Spectrum:In the Infant of Diabetic Mother. Yeni tıp derg 2007;24(2):117-9.
  7. Engiz O, Balci S, Unsal M, Ozer S, Oguz KK, Aktas D. 31 Cases with oculoauriculovertebral dysplasia (Goldenhar Syndrome): cli- nical, neuroradiologic, audiologic and cytogenetic findings. Genet couns 2007;18(3):277-88.
  8. Konaş E, Canter HI, Mavili ME. Goldenhar complex with atypical associated anomalies:Is the spectrum still widening? J Craniofac Surg 2006;17(4):669-72.
  9. Nakajima H, Goto G, Tanaka N, Ashiya H, Ibukiyama C. Goldenhar syndrome associated with various cardiovaskular malformations. Jpn Circ J 1998;62(8):617-20.
  10. Russell LJ, Weaver DD, Bull Mj. The axial mesodermal dysplasia spectrum. Pediatrics 1981;67(2):176-82.

Copyright and license

How to cite

1.
Altınel E, Demirel N, Zenciroğlu A, Okumuş N, Tanyıldız H, Yıldız YT. OKULOAURİKULOVERTEBRAL SPEKTRUM (GOLDENHAR SENDROMU). Turk J Pediatr Dis [Internet]. 2012 Apr. 1 [cited 2025 May 25];6(4):237-40. Available from: https://turkjpediatrdis.org/article/view/203