Abstract：
Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge. The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms.
摘要：
Barber-Say综合征是由TWIST2基因突变（2q37.3）引起的不寻常的发育异常，它编码一种在表观遗传水平起作用的蛋白质。该病例是一个2天大的男孩，其中外翻，超端粒,多毛症和其他畸形特征导致了Barber-Say综合征的临床诊断，后来通过基因测试证实了这一点。据报道约有20例这种综合征，其中不到一半的人描述了手术技术，因为它代表了手术挑战。在这种情况下，该方法包括从前臂的掌侧表面进行的外侧修补和皮肤移植，耳后区和锁骨上窝，以及来自两个大腿内侧的自体脂肪移植用于眼睑重建。这是Barber-Say综合征的第一例，其中使用锁骨上窝和前臂的皮肤移植物。
