Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2

• DOI: 10.1080/01676830.2021.1930066
• Publication Date: 2021-06-07T07:58:03Z
• Authors: Matthew A. De Niear; James J. Law; Ty W. Abel; Louise A. Mawn
• Keywords: Mosaic

Ablepharon-macrostomia syndrome (AMS) and Barber-Say (BSS) are congenital ectodermal dysplasias associated with mutations in the TWIST2 gene. Among ophthalmic anomalies that occur these syndromes, underdevelopment of anterior lamella eyelid is a defining feature. Reports mosaic expression extremely rare, only five confirmed or suspected cases described to date. Mosaic variants correlated less severe phenotype than reported for typical BSS AMS. Abnormal development appears be common feature all AMS expression. Here, we describe patient mutation typically We additionally surgical approach employed treatment this patient.