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

Ablepharon macrostomia syndrome is a rare congenital disorder caused by autosomal-dominant <i>TWIST2</i> 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.

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Journal
Orbit
Published
2025-01-10
DOI
https://doi.org/10.1080/01676830.2024.2430339
Primary Topic
Ocular Disorders and Treatments
Type
article
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article

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

Doris Quiroz, Mariana Nadais Aidar, Denny Marcos Garcia, Antônio Augusto Velasco e Cruz et al.
Orbit
Ocular Disorders and Treatments
article

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

Doris Quiroz, Mariana Nadais Aidar, Denny Marcos Garcia, Antônio Augusto Velasco e Cruz, Tatiana Boza
article en

Abstract

Ablepharon macrostomia syndrome is a rare congenital disorder caused by autosomal-dominant <i>TWIST2</i> 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.

OrbitVol. 44(4)
Universidade de São Paulo (BR), Hospital Base Guillermo Almenara Irigoyen (PE)
Life below water
Openalex Percentile: Top 99%
Ocular Disorders and Treatments
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