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1.
Egyptian Journal of Medical Human Genetics [The]. 2011; 12 (1): 91-93
Dans Anglais | IMEMR | ID: emr-126700

Résumé

Keratitis +/- ichthyosis +/- deafness [KID] syndrome is a rare disorder characterized by the occurrence of localized erythematous scaly skin lesions, severe bilateral keratitis, and sensorineural deafness. Other ocular manifestations include corneal epithelial defects and scarring, which cause progressive decline of visual acuity and may eventually lead to blindness. To our knowledge, few cases have been reported worldwide and none were reported from the Middle East Arab countries. Here we report the first Egyptian patient with this syndrome


Sujets)
Humains , Femelle , Ichtyose/diagnostic , Kératite/diagnostic , Connexines/sang , Enfant
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