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Acta Medica Iranica، جلد ۶۰، شماره ۳، صفحات ۱۹۸-۲۰۱
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عنوان انگلیسی CEDNIK Syndrome, a Rare Neuro-Cutaneous Disorder in an Iranian Patient: Case Report and Review of Specific Neuro-Ichthyotic Syndromes
چکیده انگلیسی مقاله Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome is an autosomal recessive neuro-cutaneous disorder characterized by a collection of clinical manifestations, including microcephaly, cerebral dysgenesis, palmoplantar keratoderma, facial dysmorphism, and ichthyosis. The etiology of this condition has been proved to be a homozygous mutation in the SNAP29 gene, which has an essential role in dermatological and neurological manifestations of this syndrome. In this report, we present the first documented Iranian patient with CEDNIK syndrome. So far, only 14 cases of this condition have been reported globally.  
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نویسندگان مقاله | Farah Ashrafzadeh
Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


| Mahla Esmaeilzadeh
Student Research Committee (SRC), School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


| Javad Mohammadi Asl
Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran


| Narges Hashemi
Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad,


| Shima Imannezhad
Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, .


| Nazanin Saeedi Zand
Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad,


| Hanieh Sadat Mirzadeh
Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
نشانی اینترنتی https://acta.tums.ac.ir/index.php/acta/article/view/8893
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