Barreiro-González A, Barranco-González H, Aviñó-Martínez J, López Blanco E, Gutiérrez Ontalvilla P, Évole-Buselli M
Servicio de Oftalmología, Hospital Universitario y Politécnico La Fe, Valencia, España.
Servicio de Oftalmología, Hospital Universitario y Politécnico La Fe, Valencia, España.
Arch Soc Esp Oftalmol (Engl Ed). 2019 Apr;94(4):196-199. doi: 10.1016/j.oftal.2018.09.009. Epub 2018 Nov 16.
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.
巴伯-赛综合征是一种由TWIST2基因（2q37.3）突变引起的罕见发育异常，该基因编码一种在表观遗传水平起作用的蛋白质。本文报道了一例2日龄男婴，其睑外翻、眼距增宽、多毛症及其他畸形特征导致临床诊断为巴伯-赛综合征，随后经基因检测得以证实。关于该综合征已报道约20例病例，其中描述手术技术的不到一半，因为这是一项手术挑战。该病例的手术方法包括外侧睑缘缝合术，取自前臂掌侧、耳后区域和锁骨上窝的皮肤移植，以及取自双侧大腿内侧的自体脂肪移植用于眼睑重建。这是首例使用取自锁骨上窝和前臂皮肤移植治疗巴伯-赛综合征的病例。
