NDLI: Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report.

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Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report.

Content Provider	Europe PMC
Author	Mohd Jais, Mohammad Fahim Wan Dien, Tai Ang, Wen-Jeat Raja Omar, Raja Norliza Mohamad, Nor Fadhilah
Editor	Muacevic, Alexander Adler, John R
Copyright Year	2023
Abstract	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.
Journal	Cureus
Volume Number	15
DOI	10.7759/cureus.36086
PubMed Central reference number	PMC10095601
Issue Number	3
PubMed reference number	37065317
e-ISSN	21688184
Language	English
Publisher	Cureus
Publisher Date	2023-03-13
Publisher Place	Palo Alto (CA)
Access Restriction	Open
Subject Keyword	ectodermal dysplasia ectrodactyly cornea cleft-palate eec syndrome
Content Type	Text
Resource Type	Case study
Subject	Medicine

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