Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome

Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids and skin. It is caused by heterozygous mutations in gene TWIST2, localized in chromosome 2q37.3. The authors present the case of a pediatric patient with a clinical diagnosis of Barber-Say syndrome with ocular symptoms related to exposure keratitis. Molecular analysis of her DNA revealed a mutation on TWIST2 gene confirming the diagnosis of Barber-Say syndrome. Surgical treatment of the patient's eyelids resolved her signs and symptoms. Accepted for publication October 29, 2017. The authors F.Z. and M.C.A. contributed equally to the study in this article and are considered first authors. The authors have no financial or conflicts of interest to disclose. Address correspondence and reprint requests to Juan C. Zenteno, M.D., Ph.D., Genetics Department, Institute of ophthalmology Conde de Valenciana, Chimalpopoca 14, Col. Obrera, CP 06800, Cuauhtemoc, Mexico City, Mexico. E-mail: jczenteno@institutodeoftalmologia.org. © 2018 by The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc., All rights reserved.