De Niear Matthew A, Law James J, Abel Ty W, Mawn Louise A
Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Orbit. 2022 Dec;41(6):779-782. doi: 10.1080/01676830.2021.1930066. Epub 2021 Jun 7.
Ablepharon-macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are congenital ectodermal dysplasias associated with mutations in the TWIST2 gene. Among the ophthalmic anomalies that occur in these syndromes, underdevelopment of the anterior lamella of the eyelid is a defining feature. Reports of mosaic expression of TWIST2 mutations are extremely rare, with only five confirmed or suspected cases described to date. Mosaic expression of TWIST2 variants is correlated with a less severe phenotype than that reported for the typical expression of TWIST2 variants associated with BSS or AMS. Abnormal development of the anterior lamella appears to be a common feature in all cases of AMS with mosaic expression. Here, we describe the phenotype of a patient with mosaic expression of a TWIST2 mutation that is typically associated with AMS. We additionally describe the surgical approach employed in the treatment of this patient.
无睑-大口综合征（AMS）和巴伯-赛综合征（BSS）是与TWIST2基因突变相关的先天性外胚层发育不良。在这些综合征中出现的眼科异常中，眼睑前层发育不全是一个决定性特征。TWIST2突变的嵌合表达报告极为罕见，迄今为止仅描述了5例确诊或疑似病例。与BSS或AMS相关的TWIST2变体典型表达相比，TWIST2变体的嵌合表达与较轻的表型相关。前层异常发育似乎是所有嵌合表达的AMS病例的共同特征。在此，我们描述了一名具有通常与AMS相关的TWIST2突变嵌合表达患者的表型。我们还描述了治疗该患者所采用的手术方法。
