Title of article
Connexin 26 (GJB2) mutation in KID syndrome: An Egyptian patient
Author/Authors
elsayed, s.m. ain shams university - faculty of medicine - pediatrics department, genetics unit, Egypt , seifeldeen, n.s. ain shams university - faculty of medicine - dermatology department, Egypt , bolz, h. University Hospital of Cologne - institute of human genetics, Germany
From page
91
To page
93
Abstract
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. © 2011.
Keywords
Deafness , Ichthyosis , Keratitis
Journal title
Egyptian Journal of Medical Human Genetics
Journal title
Egyptian Journal of Medical Human Genetics
Record number
2720961
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