Jing Feng, Yang Dan, Chen Tao, Liang Lipin
Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Dec 10;33(6):878-882. doi: 10.3760/cma.j.issn.1003-9406.2016.06.030.
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant and male-lethal multi-system disorder characterized by congenital hemidysplasia, strictly lateralized ichthyosiform nevus and ipsilateral limb defects. CHILD syndrome is caused by mutations of nicotinamide adenine dinucleotide phosphate steroid dehydrogenase-like protein (NSDHL) gene mapped to chromosome Xq28. The gene encodes 3β-hydroxylsterol dehydrogenase, which catalyses a step in the cholesterol biosynthetic pathway. This paper has provided a review for recent progress in research on CHILD syndrome including its clinical aspects, pathology, etiology, pathogenesis, differential diagnosis, and treatment, with a particular emphasis on its treatment..
先天性半侧发育不良伴鱼鳞病样痣和肢体缺损（CHILD）综合征是一种罕见的X连锁显性且男性致死性多系统疾病，其特征为先天性半侧发育不良、严格局限于一侧的鱼鳞病样痣和同侧肢体缺损。CHILD综合征由定位于Xq28染色体的烟酰胺腺嘌呤二核苷酸磷酸类固醇脱氢酶样蛋白（NSDHL）基因突变引起。该基因编码3β-羟基类固醇脱氢酶，它催化胆固醇生物合成途径中的一个步骤。本文综述了CHILD综合征的最新研究进展，包括其临床、病理、病因、发病机制、鉴别诊断和治疗，尤其着重于其治疗方面。
