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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Goldenhar syndrome with skin tags on the chest wall
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Goldenhar syndrome with skin tags on the chest wall

机译：戈登哈尔综合症在胸壁上有皮肤标签

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摘要

Goldenhar syndrome is a congenital condition that is associated with abnormalities of the head and the bones of the spinal column. The abnormalities of the head can include anomalies of the eyes, ears, facial bones, and mouth. These anomalies are extremely variable in severity. The exact cause of Goldenhar syndrome remains unknown. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. This work reports a case of Goldenhar syndrome in a 1-year-old female, who presented some of the classical signs of this rare condition including Hemifacial Microsomia, epibulber dermoid tumor and preauricular skin tags. However, vertebral anomalies, deafness, renal and cardiac anomalies were absent. Skin tags on the anterior chest wall were reported in this patient for the first time.
机译：戈登哈尔综合症是一种先天性疾病，与脊柱的头部和骨骼异常有关。头部异常可能包括眼睛，耳朵，面部骨骼和嘴部异常。这些异常的严重性变化很大。戈登哈尔综合征的确切病因尚不清楚。由于这种罕见疾病的病因学已显示出自身的遗传变异和不明原因，因此尚未完全明了。这项工作报告了一名1岁女性的Goldenhar综合征病例，该病例表现出这种罕见病的一些经典体征，包括面肌微粒症，表皮样皮肤肿瘤和耳前皮肤标签。但是，没有椎体异常，耳聋，肾脏和心脏异常。该患者首次报道了前胸壁的皮肤标签。

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