Journals / Bakırköy Tıp Dergisi / 2013 / Cilt: 9 - Sayı: 1

Ocular findings of a case with oculoauriculovertebral spectrum

Oküloaurikülovertebral spektrumlu bir olguda göz bulguları

Pages
33–35
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this article, an adult case of oculoauriculovertebral spectrum with multiple ocular anomalies accompanying minimal systemic problem was presented and oculoauriculovertebral spectrum was mentioned as a differential diagnoses in cases with ocular anomalies.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:The term oculoauriculovertebral spectrum is characterized by ocular, auricular and vertebral anomalies which was previously named as hemifacial microsomia, Goldenhar syndrome or first-second branchial arch anomaly.
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Key Findings & Data:The term oculoauriculovertebral spectrum is characterized by ocular, auricular and vertebral anomalies which was previously named as hemifacial microsomia, Goldenhar syndrome or first-second branchial arch anomaly.
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Conclusion & Impact:In this article, an adult case of oculoauriculovertebral spectrum with multiple ocular anomalies accompanying minimal systemic problem was presented and oculoauriculovertebral spectrum was mentioned as a differential diagnoses in cases with ocular anomalies.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

The term oculoauriculovertebral spectrum is characterized by ocular, auricular and vertebral anomalies which was previously named as hemifacial microsomia, Goldenhar syndrome or first-second branchial arch anomaly. In this article, an adult case of oculoauriculovertebral spectrum with multiple ocular anomalies accompanying minimal systemic problem was presented and oculoauriculovertebral spectrum was mentioned as a differential diagnoses in cases with ocular anomalies.

Özet

Hemifasiyel mikrosomi, birinci ve ikinci brankial ark anomalileri olan olgular Goldenhar sendromu olarak bilinmektedir, bu sendrom son yıllarda bu bulgulara mandibular, auriküler, oküler ve vertebral anomalilerin değişik kombinasyonlarını kapsayan klinik durumların eklenmesiyle oküloaurikülovertebral spektrum olarak adlandırılmaya başlanmıştır. Bu çalışmada hafif sistemik bulguların varlığında birden fazla oküler bulgunun birlikte görüldüğü yetişkin bir oküloaurikülovertebral spektrum olgusu ele alınmış ve oküler anomalileri olan olgularda ayırıcı tanıda oküloaurikülovertebral spektrumun düşünülmesini sağlamak amaçlanmıştır.

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Cite This Article

GÖNCÜ, T. (2013). Ocular findings of a case with oculoauriculovertebral spectrum. Bakırköy Tıp Dergisi, Cilt: 9 - Sayı: 1, 33–35. https://ajindex.com/articles/136629

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References (16)

  1. Cohen MM Jr, Rollnick BR, Kaye CI. Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J 1989; 26: 276-286
  2. Kaye CI, Martin AO, Rollnick BR, et al. Oculoauriculovertebral anomaly: segregation analysis. Am J Med Genet 1992; 43: 913-917
  3. Ritchey ML, Norbeck J, Huang C, Keating MA, Bloom DA. Urologic manifestations of Goldenhar syndrome. Urology 1994; 43: 88-91
  4. Grabb WC. The first and second brachial arch syndrome. Plast Reconstr Surg 1965; 36: 485-508
  5. Beauchamp GR, Knepper PA. Role of the neural crest in anterior segment development and disease. J Pediatr Ophthalmol Strabismus 1984; 21: 209-214
  6. Gorlin RJ, Pindborg JJ, Cohen MM Jr (Eds). Syndromes of the Head and Neck, 2nd Ed. New York: McGraw-Hill 1976: p. 546-552
  7. Rollnick BR, Kaye CI. Hemifacial microsomia and variants: pedigree data. Am J Med Genet 1983; 15: 233-253
  8. Tasse C, Majewski F, Böhringer S, et al. A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol 2007; 16: 1-7
  9. Rao VA, Kaliaperumal S, Subramanyan T, Rao KR, Bhargavan R. Goldenhar’s sequence with associated juvenile glaucoma in Turner’s syndrome. Indian J Ophthalmol 2005; 53: 267-268
  10. Tasse C, Bohringer S, Fischer S, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 2005; 48: 397-411
  11. 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: 1317- 1325
  12. Baum JL, Feingold M. Ocular aspects of Goldenhar syndrome. Am J Ophthalmol 1973; 75: 250-257
  13. Nijhawan N, Morad Y, Seigel-Bartelt J, Levin AV. Caruncle abnormalities in the oculo-auriculo-vertebral spectrum. Am J Med Genet 2002; 113: 320-325
  14. Yılmaz T, Çelebi S, Kibar Y, Özercan İ, Kükner AŞ. Goldenhar sendromlu bir olgu. MN Oftalmoloji 2002; 9: 909-915
  15. Özkağnıcı A, Zengin N, Okudan S, Avunduk MC. Limbal dermoid nedeniyle opere edilen bir Goldenhar sendromu olgusu. T Oft Gaz 2000; 30: 513-516
  16. Margolis S, Aleksic S, Charles N, McCarthy J, Greco A, Budzilovich G. Retinal and optic nerve findings in Goldenhar-Gorlin syndrome. Ophthalmology 1984; 91:1327-1333.