Kulaktan kalbe uzanan bir sendrom: Goldenhar Sendromu

Year 2013, Volume: 19 Issue: 3, 196 - 198, 01.04.2013

Seda Işıkay Sadettin Sezer Ayşe Demirçubuk Evrim Kiray Baş Ünal Sarıkabadayı

Abstract

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.

Keywords

Goldenhar sendromu; kraniofasiyal anomali; mikrotia; yüz asimetrisi

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

Abstract

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.

Keywords

Goldenhar syndrome; craniofacial abnormalities; microtia; facial asymmetry

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