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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...

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Autores principales: Mohd Jais, Mohammad Fahim, Wan Dien, Tai, Ang, Wen-Jeat, Raja Omar, Raja Norliza, Mohamad, Nor Fadhilah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
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.
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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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