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

Mohammad Fahim Mohd Jais, Tai Wan Dien, Wen-Jeat Ang,Raja Norliza Raja Omar, Nor Fadhilah Mohamad

Cureus(2023)

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摘要
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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关键词
cleft-palate,cornea,ectodermal dysplasia,ectrodactyly,eec syndrome
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