Kulaktan kalbe uzanan bir sendrom: Goldenhar Sendromu

Yıl 2013, Cilt: 19 Sayı: 3, 196 - 198, 01.04.2013

Seda Işıkay Sadettin Sezer Ayşe Demirçubuk Evrim Kiray Baş Ünal Sarıkabadayı

Öz

Goldenhar sendromu ya da oküloaurikulovertebral spektrum, okülo-aurikulo-vertebral anomali triadı ile karakterize çok nadir görülen bir hastalıktır. Kraniofasiyal anomalilere ek olarak kardiyak, genitoüriner, iskelet ve santral sinir sistemi anomalileri de görülebilmektedir. Bu yazıda depresör anguli oris kası hipoplazisi, mikrotia, vertebra füzyon anomalisi, pes ekinovarus deformitesi ve ventriküler septal defekti saptanan oküloaurikulovertebral spektrum tanısı konulan bir yenidoğan olgu nadir görülmesi nedeniyle sunulmuştur. Sonuç olarak, kulak anomalisinin göze çarptığı yüz anomalileri olan olgularda Goldenhar sendromu akla gelmelidir. Eşlik edebilecek anomaliler açısından olgular değerlendirilmelidir.

Anahtar Kelimeler

Goldenhar sendromu; kraniofasiyal anomali; mikrotia; yüz asimetrisi

A syndrome extent to heart from the ear: Goldenhar's Syndrome

Öz

Goldenhar's syndrome or oculoauriculovertebral spectrum is a very rare disease, with characteristic oculo-auriculo-vertebral triad of abnormalities. In addition to craniofacial anomalies, there may be cardiac, genitourinary, skeletal and central nervous system defects. We report here a newborn presented with hypoplasia of depressor anguli oris muscle, microtia, vertebral fusion abnormality, pes equinovarus deformity and ventricular septal defect and diagnosed oculoauriculovertebral spectrum. In conclusion, Goldenhar's syndrome may be observed in patients with ear anomalies and facial anomalies. The cases should be evaluated in terms of anomalies that may accompany.

Anahtar Kelimeler

Goldenhar syndrome; craniofacial abnormalities; microtia; facial asymmetry

Kaynakça

• 1. Hartsfield JK. Review of the etiologic heterogeneity of the oculoauriculo-vertebral spectrum (Hemifacial Microsomia). Orthod Craniofac Res 2007;10(3):121-8.
• 2. Verona LL, Dauian NG, Pavarina LP, Ferreira CH, Melo DG. Monozygotic twins discordant for Goldenhar syndrome. J Pediatr (Rio J) 2006;82(1):75-8.
• 3. Lima Mde D, Marques YM, Alves Sde M Jr, Ortega KL, Soares 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.
• 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. Engiz O, Balci S, Unsal M, Ozer S, Oguz KK, Aktas D. 31 Cases with oculoauriculovertebral dysplasia (Goldenhar Syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings. Genet Couns 2007;18(3):277-88.
• 7. Digilio MC, Calzolari F, Capolino R, Toscano A, Sarkozy A, de Zorzi A, et al. Congenital heart defects in patients with oculoauriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet A 2008;146(14):1815-9.
• 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. Herwig MC, Gembruch U, Born M, Gevensleben H, Loeffler KU, Müller AM. Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome. Pediatr Dev Pathol 2011;14(4):322-6.
• 10. Schittkowski MP, Guthoff RF. Systemic and ophthalmological anomalies in congenital anophthalmic or microphthalmic patients. Br J Ophthalmol 2010;94(4):487-93.
• 11. Ahmed R, Traynelis VC, Menezes AH. Fusions at the craniovertebral junction. Childs Nerv Syst 2008;24(10):1209- 24.
• 12. Sesenna E, Magri AS, Magnani C, Brevi BC, Anghinoni ML. Mandibular distraction in neonates: indications, technique, results. Ital J Pediatr 2012;38:7.