AEC综合征1例报告及文献复习

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:report of one case and review of the literature

AEC syndrome is a rare genetic disease and its cardinal signs are considered to be ankyloblepharon,ectoder mal dysplasia and facial cleft.To introduce the diagnosis and treatment of this disease,we presented a case suffering from AEC syndrome and reviewed the literature.The clinical manifestation,diagnosis and treatment of this disease were investigated as well.According to the clinical manifestation of this case,a treatment plan was made,then the patient received cleft lip repair and his profile was improved postoperatively.As AEC syndrome is a congenital disease that is characterized by a wide range of clinical manifestation,the profile and development of the patient will be severely affected.Therefore,we should realize the syndrome and make a systemic and sequential treatment plan for the patient.