Goldenhar综合征一例报道及文献复习  

Report of a case with Goldenhar syndrome and literature review

作　　者：钱蓓倩[1] 汪吉梅[1] 王惠娟[1] 骆菲[1] 

机构地区：[1]复旦大学附属妇产科医院新生儿科,上海200011

出　　处：《中国优生与遗传杂志》2014年第8期87-89,F0002,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨Goldenhar综合征的发病机制、临床表现、诊断及治疗,以提高临床医生对本病的认识。方法报道一例Goldenhar综合征患儿的临床资料,并复习通过文献数据库检索的相关文献。结果 Goldenhar综合征病因尚不清楚,临床表现具有高度多样性,包括眼部畸形、耳部畸形、颜面畸形、脊柱异常、心脏及其它脏器等的发育缺陷;诊断主要依靠特征性的临床表现及头颅、脊柱的影像学检查;治疗以整形外科手术为主,如无合并严重脏器畸形,一般预后良好;产前胎儿超声对产前诊断有一定帮助。结论 Goldenhar综合征是一种涉及全身多个器官系统的先天性畸形,详细的体格检查,并进行影像学检查,避免因诊断不全而延误对患者进行及时的诊治非常重要。Objective： To summarize and review the clinical characteristics including nosogenesis, clinical features, diagnosis and treatments of the Goldenhar syndrome to improve the recognition of the disease. Methods： The clinical data of one case with Goldenhar syndrome and the reports of cases were reviewed and analyzed.Results： Goldenhar syndrome is known as oculoauricular vertebral dysplasia syndrome： The etiology is not clear, the majority of scholars believe that the early embryo, and the first two pharyngeal arch blood disorders.The clinical manifestations with high diversity, include ocular dermoid cyst, deformity of ear, facial deformity, spinal disorders, developmental defects, heart and other organs; Early and correct diagnosis is very important.Conclusion： Goldenhar syndrome is a congenital multiple malformation. A detailed physical examination, and imaging examination is very important for the timely diagnosis and treatment.

关 键 词：GOLDENHAR综合征 发病机制 临床表现 临床治疗 

分 类 号：R714.5[医药卫生—妇产科学]