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CHILD syndrome in a boy

✍ Scribed by Happle, Rudolf; Effendy, Isaak; Megahed, Mosaad; Orlow, Seth J.; Küster, Wolfgang

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
39 KB
Volume
62
Category
Article
ISSN
0148-7299

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✦ Synopsis

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-yearold 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 malelethal inheritance of this trait.

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