Upper and lower eyelid contour and positional changes after deep skin grafts in ablepharon macrostomia syndrome.

Abstract

Ablepharon macrostomia syndrome is a rare congenital disorder caused by autosomal-dominant TWIST2 mutations. This condition is characterized by redundant skin, low-set ears, macrostomia, ambiguous genitalia, and underdevelopment of the both upper and lower eyelids. The shortening of the anterior lamella, septum and levator aponeurosis lead to a severe corneal exposure within the first hours of life. Since McCarthy and West's first report in 1977, 21 AMS cases have been documented. We report a new AMS case with a quantitative analysis of palpebral fissure changes following skin grafts over the upper and lower smooth tarsal muscles and lateral tarsorrhaphy.