title: CHILD syndrome in a boy.
abstract: 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.
authors.affiliation: Department of Dermatology, University of Marburg, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Happle
authors.forename: I
authors.initials: I
authors.lastname: Effendy
authors.forename: M
authors.initials: M
authors.lastname: Megahed
authors.forename: S J
authors.initials: SJ
authors.lastname: Orlow
authors.forename: W
authors.initials: W
authors.lastname: Küster
mesh_terms: D002675:Child, Preschool; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D007621:Karyotyping; D007866:Leg / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D013577:Syndrome