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  • Title: CHILD syndrome in a boy.
    Author: Happle R, Effendy I, Megahed M, Orlow SJ, Küster W.
    Journal: Am J Med Genet; 1996 Mar 15; 62(2):192-4. PubMed ID: 8882402.
    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.
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