Abstract
Goldenhar sendromu veya okuloaurikulovertebral spektrum (OAVS), preaurikuler skin tag, mikroşia, fasiyel asimetri, göz anomalileri, farklı boyut ve şekildeki vertebra anomalileri ile karakterizedir. Tanı için kulak anomalileri şarttır. Kraniofasiyel anomalilere ek olarak kardiyak, genitoüriner ve santral sinir sistemi anomalileri de görülebilmektedir. Sendromun genellikle birinci ve ikinci brankial ark anomalileri nedeniyle oluştuğu düşünülmektedir. Etyolojinin heterojen olmasına bağlı olarak sendromun fenotipik bulguları da değişkenlik göstermektedir. Burada sol hemifasiyel mikrosomi, depresör anguli oris kası hipoplazisi, mikroşia, işitme kaybı ve ventriküler septal defekt (VSD) saptanan bir yenidoğan olgu sunulmuştur.
References
- Hartsfield JK. Review of the etiologic heterogeneity of the oculo- auriculo-vertebral spectrum (Hemifacial Microsomia). Orthod Craniofac Res 2007;10(3):121-8.
- 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.
- 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.
- Pinheiro AL, Araujo LC, Oliveira SB, Sampaio MC, Freitas AC. Goldenhar’s syndrome-Case report. Braz Dent J 2003;14(1):67-70.
- Jena AK, Duggal R. Atypical goldenhar syndrome: a case report. J Clin Pediatr Dent 2006;31(2):118-22.
- 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.
- 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.
- 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.
- 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.
- Russell LJ, Weaver DD, Bull Mj. The axial mesodermal dysplasia spectrum. Pediatrics 1981;67(2):176-82.
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
References
- Hartsfield JK. Review of the etiologic heterogeneity of the oculo- auriculo-vertebral spectrum (Hemifacial Microsomia). Orthod Craniofac Res 2007;10(3):121-8.
- 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.
- 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.
- Pinheiro AL, Araujo LC, Oliveira SB, Sampaio MC, Freitas AC. Goldenhar’s syndrome-Case report. Braz Dent J 2003;14(1):67-70.
- Jena AK, Duggal R. Atypical goldenhar syndrome: a case report. J Clin Pediatr Dent 2006;31(2):118-22.
- 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.
- 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.
- 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.
- 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.
- Russell LJ, Weaver DD, Bull Mj. The axial mesodermal dysplasia spectrum. Pediatrics 1981;67(2):176-82.
Details
| Other ID | JA76MR75VB |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | April 1, 2012 |
| Submission Date | April 1, 2012 |
| Published in Issue | Year 2012 Volume: 6 Issue: 4 |
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The publication language of Turkish Journal of Pediatric Disease is English.
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