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- W4242135462 abstract "CHILD syndrome (OMIM # 308050) is an acronym designation for Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects. This X-linked dominant, male-lethal trait is characterized by: (1) congenital unilateral inflammatory erythematous patches often covered in dry yellowish scales which usually undergo spontaneous partial regression during childhood; (2) psoriasiform epidermal hyperplasia with marked hyperkeratosis and parakeratosis, with sparse perivascular lymphocytic infiltrates at skin histology; and (3) ipsilateral hypoplasia of the limbs (but also of the skeleton) and/or other organs (e.g., lungs, thyroid, muscles, cranial nerves, brain, brainstem, cerebellum and spinal cord, etc.). Other associate extra-cutaneous manifestations include cardiovascular and neurological deficits (related to the underlying central visceral and/or nervous system abnormalities) (Happle et al. 1980, Tang and McCreadle 1974, Taybi and Lachman 1996). CHILD syndrome is caused by mutations in the gene encoding NSDHL (3ß-hydrosteroid dehydrogenase-like protein) at Xq28 (Konig et al. 2000, 2002). Emopamil-binding protein (EBP) gene defects (responsible for the Conradi-Hunermann-Happle syndrome/X-linked dominant chondrodysplasia punctata—EBP/CDPX2 gene on Xp11) (OMIM # 302960) (see chapter 38) have been also described (OMIM™ 2006). Both enzymes are involved in cholesterol biosynthesis." @default.
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- W4242135462 date "2008-01-01" @default.
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- W4242135462 title "Child Syndrome" @default.
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- W4242135462 doi "https://doi.org/10.1007/978-3-211-69500-5_37" @default.
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