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Inicio Archivos de la Sociedad Española de Oftalmología (English Edition) Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report
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Vol. 94. Issue 4.
Pages 196-199 (April 2019)
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Vol. 94. Issue 4.
Pages 196-199 (April 2019)
Short communication
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report
Reconstrucción palpebral multidisciplinar en el síndrome de Barber-Say: a propósito de un caso
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A. Barreiro-Gonzáleza,
Corresponding author
antoniobarreiro3@gmail.com

Corresponding author.
, H. Barranco-Gonzáleza, J. Aviñó-Martíneza, E. López Blancob, P. Gutiérrez Ontalvillab, M. Évole-Busellic
a Servicio de Oftalmología, Hospital Universitario y Politécnico La Fe, Valencia, Spain
b Servicio de Cirugía Plástica, Hospital Universitario y Politécnico La Fe, Valencia, Spain
c Servicio de Dermatología, Hospital Universitario y Politécnico La Fe, Valencia, Spain
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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
Ectropion
Hypertelorism
Oculoplastic surgery
Skin grafts
Tarsorrhaphy
Resumen

El síndrome de Barber-Say es una infrecuente displasia producida por la mutación del gen TWIST2 (2q37.3) que codifica una proteína que actúa a nivel epigenético. Presentamos el caso de un niño de 2 días en el que el ectropion, el hipertelorismo, la hipertricosis y demás rasgos dismórficos condujeron al diagnóstico clínico de síndrome de Barber-Say, posteriormente confirmado genéticamente. Alrededor de 20 casos se han publicado sobre este síndrome; sin embargo, en menos de la mitad se describe la técnica para abordar las malformaciones palpebrales, lo que supuso un reto quirúrgico.

Nuestra actuación incluyó una tarsorrafia lateral y la toma de injertos de piel de la superficie palmar del antebrazo, área retroauricular y fosa supraclavicular, así como injertos grasos de la superficie interna de ambos muslos para la reconstrucción palpebral. Se trata del primer caso de síndrome de Barber-Say en el que se utilizan injertos supraclaviculares y del antebrazo.

Palabras clave:
Síndrome de Barber-Say
Ectropion
Hipertelorismo
Cirugía oculoplástica
Injertos dérmicos
Tarsorrafia

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