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CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene
Author(s) -
Poojary Shital,
Shah Kapisha S.,
Bhalala Krishna B.,
Hegde Anaita Udwadia
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13761
Subject(s) - medicine , microcephaly , dermatology , mutation , ichthyosis , dysgenesis , genetics , gene mutation , palmoplantar keratoderma , pediatrics , gene , hyperkeratosis , anatomy , biology
CEDNIK (CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma) syndrome is a neuroichthyotic syndrome characterized by a constellation of clinical features including severe developmental retardation, microcephaly, and facial dysmorphism. Here, we report the first case of CEDNIK syndrome from India presenting with characteristic clinical features and harboring a novel mutation of SNAP29 gene.