Zuazo Francisca, Astiazaran Mirena C, Rodríguez-Cabrera Lourdes, Garcia-Regil Patricia, Chacon-Camacho Oscar, Tovilla-Canales José L, Zenteno Juan C
Department of Orbit and Oculoplastics, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico.
Ophthalmic Plast Reconstr Surg. 2018 Mar/Apr;34(2):e61-e63. doi: 10.1097/IOP.0000000000001036.
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.
巴伯-赛综合征是一种罕见的常染色体显性疾病，其特征为主要累及眼睑和皮肤的畸形特征。它由位于2号染色体2q37.3区域的TWIST2基因杂合突变引起。作者报告了一例临床诊断为巴伯-赛综合征且伴有暴露性角膜炎相关眼部症状的儿科患者病例。对其DNA进行分子分析发现TWIST2基因存在突变，从而确诊为巴伯-赛综合征。对该患者眼睑进行手术治疗后，其体征和症状得到缓解。
