Article
Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.
Pediatric research - 1 Jan 2006
Todd Emily S, Weinberg Seth M, Berry-Kravis Elizabeth M, Silvestri Jean M, Kenny Anna S, Rand Casey M, Zhou Lili, Maher Brion S, Marazita Mary L, Weese-Mayer Debra E
Abstract excerpt
Congenital central hypoventilation syndrome (CCHS) is caused by mutations in PHOX2B, which is essential for maturation of the neural crest into the autonomic nervous system and is expressed in the dorsal rhombencephalon, a region that gives rise to facial structures. Digital photographs of 45 individuals with PHOX2B-confirmed CCHS, and 45 matched controls were analyzed for 17 linear and 6 angular measurements,...
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