Article
Airway obstruction in two children with congenital central hypoventilation syndrome and review of the literature.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Apr 2024
Wolff Richard, Dudoignon Benjamin, Naudin Jérôme, Madani Amélia, Delclaux Christophe, Bokov Plamen, Dauger Stéphane
Abstract excerpt
Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disease that is caused by heterozygous mutations in the paired-like homeobox 2B gene (PHOX2B). Madani et al. described an abnormally high degree of not only central apnea but also obstructive and mixed apnea in Phox2b27Ala/+newborn mice. Newborns with CCHS must undergo polysomnography for obstructive respiratory events in order to guide...
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