CHILD syndrome in a boy.
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.
Happle
R
R
Department of Dermatology, University of Marburg, Germany.
Effendy
I
I
Megahed
M
M
Orlow
S J
SJ
Küster
W
W
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