頁籤選單縮合
題名 | Goldenhar Syndrome (Oculoauriculovertebral Dysplasia): Report of One Case=Goldenhar氏症候群:一病例報告 |
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作者 | 黃元韻; 胡瑞銘; 蘇本華; 陳家玉; 楊明祥; 陳素珍; Ng, Yan-yan; Hu, Jui-ming; Su, Pen-hua; Chen, Jia-yuh; Yang, Ming-shiang; Chen, Suh-jen; |
期刊 | 臺灣兒科醫學會雜誌 |
出版日期 | 20060500、20060600 |
卷期 | 47:3 民95.05-06 |
頁次 | 頁142-145+163 |
分類號 | 417.5 |
語文 | eng |
關鍵詞 | Goldenhar氏症候群; 眼耳脊椎發育異常; 外耳道閉鎖; 下頜發育不全; Goldenhar syndrome; Oculoauriculovertebral dysplasia; External ear altresia; Mandibular hypoplasia; |
英文摘要 | Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is an uncommon condition, characterized by a combination of anomalies: epibulbar dermoids or lipodermoids, preauricular appendices, malformation of the ears, hemifacial microsomia, vertebral anomalies, and others. The etiology of this disease has remained unclear; factors including chromosomal abnormalities, maternal diabetes mellitus or drug use, and influence of environment during pregnancy have been proposed. Here, we describe a case of Goldenhar syndrome in a 1-day-old female newborn, who presented with right external ear atresia, left preauricular appendices, cleftlike extension of the right oral angle, mandibular hypoplasia and relatively small hands. The literature on Goldenhar syndrome is briefly reviewed. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。