title: [Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].
abstract: 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..
authors.affiliation: Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China. dr_taochen@yahoo.com.
authors.forename: Feng
authors.initials: F
authors.lastname: Jing
authors.forename: Dan
authors.initials: D
authors.lastname: Yang
authors.forename: Tao
authors.initials: T
authors.lastname: Chen
authors.forename: Lipin
authors.initials: L
authors.lastname: Liang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D009506:Nevus / Q000235:genetics*; D013577:Syndrome