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.
Authors
- Doris Quiroz
- Mariana Nadais Aidar
- Denny Marcos Garcia (ORCID: https://orcid.org/0000-0001-9123-2728)
- Antônio Augusto Velasco e Cruz (ORCID: https://orcid.org/0000-0002-8972-5571)
- Tatiana Boza
Institutions
- Universidade de São Paulo (BR)
- Hospital Base Guillermo Almenara Irigoyen (PE)
Publication Details
- Journal
- Orbit
- Published
- 2025-01-10
- DOI
- https://doi.org/10.1080/01676830.2024.2430339
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00