Title of article
Chediak-Higashi Syndrome – A Case Report
Author/Authors
MASOOD، A. نويسنده , , NADEEM، M. نويسنده , , AMAN، S. نويسنده , , KAZMI، A.H. نويسنده ,
Issue Information
دوفصلنامه با شماره پیاپی سال 2008
Pages
4
From page
119
To page
122
Abstract
Chediak-Higashi syndrome (CHS) is an autosomal recessively inherited, rare disorder, characterized by oculo-cutaneous albinism, photophobia, nystagmus and an abnormal susceptibility to cutaneous and respiratory infections. Hematological and serious neurological abnormalities can also occur with progression of the disease. Many similar cases of the disease with additional features have been reported in foreign literature. We describe one case of this disorder along with review of literature.
Keywords
photophobia , Oculo-cutaneous , albinism
Journal title
Annals of King Edward Medical University
Serial Year
2008
Journal title
Annals of King Edward Medical University
Record number
138065
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