AI Summary & Key Takeaways
AI InsightIn this article, a patient with Goldenhar's syndrome who had severe ear anomalies, mandibular hypoplasia and a diaphragmatic dyskinesia, an association that has not previously been described, is reported and the related literature is reviewed.
📌 3 Key Takeaways
Abstract
Cesur Y, Bekerecioğlu M, Özkaya E, Kan MC, Odabaş D. (Department of Pediatrics, Yüzüncü Yıl University Faculty of Medicine, Van, Turkey). Goidenhar syndrome with a diaphragmatic dyskinesia: a case report. Çocuk Sağlığı ve Hastalıkları Dergisi 1997; 40: 105-110. Goldenhar syndrome, or oculoauriculovertebral dysplasia, is a heterogeneous field defect involving the first and second branchial arches. In addition to the vertebral anomalies, eye defects including epibulbar dermoids, unilateral coloboma and occasionally microphthalmia, cataract or atrophy of the iris, microtia, ear anomalies and hypomandibulosis are characteristic. In this article, a patient with Goldenhar's syndrome who had severe ear anomalies, mandibular hypoplasia and a diaphragmatic dyskinesia, an association that has not previously been described, is reported and the related literature is reviewed.
Özet
Goldenhar sendromu veya oküloaurikülovertebral displazi, birinci ve ikinci brankial arkları tutan heterojen bir alan defektidir. Vertebral anomalilere ek olarak epibulber dermoid, unilateral kapak kolobomu ve seyrek olarak mikroftalmi, katarakt veya iris atrofisi gibi göz defektleri, kulak anomalileri ve mandibular hipoplazi ile karakterizedir. Bu makalede ağır kulak anomalisi ve mandibula hipoplazisi ile literatürde daha önce tanımlanmamış diafragma disgenezisi olan Goldenhar sendromlu bir vaka sunularak ilgili literatür gözden geçirilmiştir.