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Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report
Ocular manifestations are common associations of ectrodactyly-Ectodermal dysplasia-cleft palate (EEC) syndrome. We would like to report a case of a 48-year-old patient with EEC syndrome who manifested ocular and extraocular signs and symptoms. The ophthalmic findings in this patient included chronic...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095601/ https://www.ncbi.nlm.nih.gov/pubmed/37065317 http://dx.doi.org/10.7759/cureus.36086 |
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author | Mohd Jais, Mohammad Fahim Wan Dien, Tai Ang, Wen-Jeat Raja Omar, Raja Norliza Mohamad, Nor Fadhilah |
author_facet | Mohd Jais, Mohammad Fahim Wan Dien, Tai Ang, Wen-Jeat Raja Omar, Raja Norliza Mohamad, Nor Fadhilah |
author_sort | Mohd Jais, Mohammad Fahim |
collection | PubMed |
description | Ocular manifestations are common associations of ectrodactyly-Ectodermal dysplasia-cleft palate (EEC) syndrome. We would like to report a case of a 48-year-old patient with EEC syndrome who manifested ocular and extraocular signs and symptoms. The ophthalmic findings in this patient included chronic blepharitis and absence of meibomian gland. There was also a presence of hazy cornea with vascularized corneal stroma and symblepharon involving the lower lid. Systemic conditions showed generalized dry and scaly skin with hand-foot split deformity. Therefore, ophthalmologists should be alert to spot and diagnose this condition as prompt treatment should be commenced considering this can be sight-threatening. |
format | Online Article Text |
id | pubmed-10095601 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-100956012023-04-13 Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report Mohd Jais, Mohammad Fahim Wan Dien, Tai Ang, Wen-Jeat Raja Omar, Raja Norliza Mohamad, Nor Fadhilah Cureus Genetics Ocular manifestations are common associations of ectrodactyly-Ectodermal dysplasia-cleft palate (EEC) syndrome. We would like to report a case of a 48-year-old patient with EEC syndrome who manifested ocular and extraocular signs and symptoms. The ophthalmic findings in this patient included chronic blepharitis and absence of meibomian gland. There was also a presence of hazy cornea with vascularized corneal stroma and symblepharon involving the lower lid. Systemic conditions showed generalized dry and scaly skin with hand-foot split deformity. Therefore, ophthalmologists should be alert to spot and diagnose this condition as prompt treatment should be commenced considering this can be sight-threatening. Cureus 2023-03-13 /pmc/articles/PMC10095601/ /pubmed/37065317 http://dx.doi.org/10.7759/cureus.36086 Text en Copyright © 2023, Mohd Jais et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Genetics Mohd Jais, Mohammad Fahim Wan Dien, Tai Ang, Wen-Jeat Raja Omar, Raja Norliza Mohamad, Nor Fadhilah Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report |
title | Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report |
title_full | Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report |
title_fullStr | Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report |
title_full_unstemmed | Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report |
title_short | Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report |
title_sort | ocular manifestations of ectrodactyly-ectodermal dysplasia-cleft palate (eec) syndrome: a case report |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095601/ https://www.ncbi.nlm.nih.gov/pubmed/37065317 http://dx.doi.org/10.7759/cureus.36086 |
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