Ophthalmic manifestations of ectrodactyly-ectodermal dysplasia-clefting syndrome.
Ophthalmic manifestations are a common component of the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome; however, few ophthalmic publications have specifically addressed these features. The authors describe a 38-year-old patient with EEC syndrome who demonstrated several associated ocular signs and symptoms. The ophthalmic findings in this patient included bilateral entropion with secondary trichiasis, and shallow inferior fornices with symblepharon. Interestingly, the patient also had vertically deficient tarsi and absence of the meibomian glands. Ophthalmologists should be aware of the ocular signs and symptoms associated with EEC because some manifestations can potentially be sight threatening.
Division of Oculoplastic and Orbital Surgery, Lions Eye Institute, Albany, NY 12208, USA.
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Ireland
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Meyer
D000328:Adult; D002971:Cleft Lip / Q000150:complications* / Q000235:genetics / Q000601:surgery; D002972:Cleft Palate / Q000150:complications* / Q000235:genetics / Q000601:surgery; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000235:genetics; D004774:Entropion / Q000151:congenital* / Q000235:genetics / Q000601:surgery; D015785:Eye Diseases, Hereditary / Q000150:complications* / Q000235:genetics / Q000601:surgery; D005260:Female; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000235:genetics; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000209:etiology / Q000235:genetics / Q000601:surgery; D008537:Meibomian Glands / Q000002:abnormalities; D013577:Syndrome