单卵双胞胎中的睑缘粘连-外胚层缺陷-唇腭裂（AEC）综合征：两例报告及文献复习

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome in monozygotic twins: two cases report and reviews.

作者信息

Jenwitheesuk Kamonwan, Surakunprapha Palakorn, Chowchuen Bowornsilp, Jetsrisuparb Charoon

机构信息

Division of Plastic Surgery, Department of Surgery, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.

出版信息

J Med Assoc Thai. 2010 Oct;93 Suppl 4:S78-82.

PMID:21299053

Abstract

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (or Hay-Wells syndrome) is a rare congenital malformation. Our first cases were a pair of female monozygotic twins with AEC syndrome at Srinagarind Hospital. In this study, we describe monozygotic female twins concordant for ankyloblephaon, ectodermal dysplasia and helical rim deformities, but discordant for cleft, syndactyly of toes, heart and urinary tract abnormalities. Twin A had syndactyly of the right third and fourth toes with incomplete bilateral cleft lip and complete bilateral cleft palate. Twin B had left ventricular enlargement, caliectasia of both kidneys with complete left unilateral cleft lip and cleft palate. The twins were treated by multidisciplinary teams with satisfactory results.

摘要

睑缘粘连-外胚层缺陷-唇腭裂（AEC）综合征（或海-韦综合征）是一种罕见的先天性畸形。我们的首例病例是诗里拉医院的一对患有AEC综合征的女性单卵双胞胎。在本研究中，我们描述了一对单卵双胞胎女性，她们在睑缘粘连、外胚层发育不良和耳廓边缘畸形方面表现一致，但在腭裂、并趾、心脏和泌尿系统异常方面表现不一致。双胞胎A右第三和第四趾并趾，双侧唇裂不完全，双侧腭裂完全。双胞胎B左心室扩大，双肾盏扩张，左侧单侧唇裂和腭裂完全。这对双胞胎由多学科团队进行治疗，效果令人满意。