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AEC综合征是一种罕见的以睑缘黏连、外胚层发育不全及面裂为主要临床表征的基因病。目前,国内尚未见该病的报道。本文报告1例AEC综合征病例,根据患者的临床表现,制订相应的治疗方案,手术修复左侧唇裂,术后患者外形有一定改善。通过文献复习,对AEC综合征的病因、临床表现、鉴别诊断及序列治疗进行了讨论。由于AEC综合征临床表现多样,严重影响患者面容及生长发育,因此,应增强对本病的认识,并进行系统序列治疗。
AEC syndrome is a rare genetic disease characterized by eyelid adhesion, ectodermal hypoplasia and facial cleft. At present, there is no report of the disease in China. This article reports a case of AEC syndrome cases, according to the clinical manifestations of patients, to develop the appropriate treatment options, surgical repair of the left cleft lip, the shape of postoperative patients have some improvement. Through the literature review, the etiology, clinical manifestations, differential diagnosis and treatment of AEC syndrome were discussed. Due to the diverse clinical manifestations of AEC syndrome, seriously affecting the patient's face and growth and development, therefore, should enhance awareness of the disease, and systematic treatment.