一名印度患者患有携带SNAP29基因新突变的CEDNIK综合征。
CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene.
作者信息
Poojary Shital, Shah Kapisha S, Bhalala Krishna B, Hegde Anaita Udwadia
机构信息
Department of Dermatology, Venereology and Leprology, K. J. Somaiya Medical College, Mumbai, Maharashtra, India.
Jaslok Hospital and Research Center, Breach Candy Hospital Trust, Bai Jerbai Wadia Hospital for Children, SRCC Children's Hospital managed by Narayana Health, Mumbai, India.
出版信息
Pediatr Dermatol. 2019 May;36(3):372-376. doi: 10.1111/pde.13761. Epub 2019 Feb 22.
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.
CEDNIK（脑发育不全、神经病变、鱼鳞病和皮肤角化病）综合征是一种神经鱼鳞病综合征，其特征是一系列临床特征，包括严重发育迟缓、小头畸形和面部畸形。在此，我们报告了印度首例CEDNIK综合征病例，该病例具有特征性临床特征，并携带SNAP29基因的一种新突变。
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