Mild phenotypic expression of CHILD syndrome in two generations.

摘要

Sir, CHILD syndrome (congenital hemidysplasia with ichthyosi-form naevus and limb defects, OMIM 308050) is a rare X-linked dominant condition. It was originally described by Otto Sachs in 1903, is lethal in male embryos and is caused by mutations in the NSDHL gene, which encodes 3 beta-hydroxysteroid dehydrogenase involved in cholesterol biosynthesis. The main features of CHILD syndrome are a unilateral inflammatory ichthyosiform naevus, with striking midline demarcation and ptychotropism (affinity to body folds) and skeletal abnormalities including shortening and absence of limbs. It can also be accompanied by ipsilateral visceral hypoplasia and malformations of organs including the brain, lung, heart, kidneys and inner ear. Although most reported cases are sporadic, here we describe a two-generation family with mild phenotypic expression and a previously reported mutation associated with severe limb abnormalities.