Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report

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.

Keywords: Barber-Say syndrome; Cirugía oculoplástica; Ectropion; Hipertelorismo; Hypertelorism; Injertos dérmicos; Oculoplastic surgery; Skin grafts; Síndrome de Barber-Say; Tarsorrafia; Tarsorrhaphy.