S. Işikay, Sadettin Sezer, Ayşe Demirçubuk, Evrim Kiray Bas, Ünal Sarıkabadayı
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引用次数: 1

摘要

Goldenhar综合征或眼耳椎谱是一种非常罕见的疾病,具有特征性的眼-耳-椎三联异常。除了颅面畸形外,还可能有心脏、泌尿生殖系统、骨骼和中枢神经系统缺陷。我们在此报告一新生儿表现为降口角肌发育不全、小畸形、椎体融合异常、马蹄内翻畸形和室间隔缺损,并诊断为眼耳椎谱。综上所述,伴有耳部异常和面部异常的患者均可出现Goldenhar综合征。应根据可能伴随的异常情况对病例进行评估。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Kulaktan kalbe uzanan bir sendrom: Goldenhar Sendromu
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.
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