Etiological Identification of Recurrent Male Fatality Due to a Novel NSDHL Gene Mutation Using Trio Whole‐exome Sequencing: A Rare Case Report and Literature Review

Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X‐linked dominant, lethal male disorder caused by mutations to the NSDHL (NAD(P)H steroid dehydrogenase‐like protein) gene. It primarily exhibits strictly unilateral congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral limb defects in female individuals.