CHILD syndrome in a boy

作者：Rudolf Happle, Isaak Effendy, Mosaad Megahed, Seth J. Orlow, Wolfgang Küster · 发表于：American Journal of Medical Genetics · 年份：1996 · DOI：10.1002/(sici)1096-8628(19960315)62:2<192::aid-ajmg14>3.0.co;2-j · 被引用次数：57 · 研究领域：Genetic and rare skin diseases.、Hedgehog Signaling Pathway Studies

CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) occurs, as a rule, exclusively in girls because the underlying X-linked gene exerts a lethal effect on male embryos. In this report the characteristic manifestations of CHILD syndrome are described in a 2-year-old boy with a normal chromosome constitution 46,XY. This exceptional case is best explained by the assumption of an early somatic mutation and thus compatible with the concept of X-linked dominant male-lethal inheritance of this trait.