CHILD syndrome in a boy.

  title={CHILD syndrome in a boy.},
  author={Rudolf Happle and Isaak Effendy and Mahmood Megahed and Seth J Orlow and Wolfgang K{\"u}ster},
  journal={American journal of medical genetics},
  volume={62 2},
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… CONTINUE READING

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