Ocular Features in Ectrodactyly–ectodermal Dysplasia Sans–clefting Syndrome: A Rare Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Ectrodactyly–ectodermal dysplasia–clefting syndrome is a rare autosomal dominant disorder with variable expression and penetrance and involves both ectodermal and mesodermal tissues. Here, we report the case of a 28-year-old female presenting with bilateral severe dry eye and features suggestive of ectrodactyly and hypohidrotic ectodermal dysplasia. She had lobster claw deformities, severe dry skin, and ocular features such as madarosis, ankyloblepharon, conjunctival xerosis, and corneal scarring. A combined effort involving ophthalmologist, dermatologist, and dentist is required to successfully manage these patients.
Source: Delhi Journal of Ophthalmology
Authors: Rekha R. Khandelwal, Deepa Ajitkumar, Sushil Pande
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7108629602