Congenital central hypoventilation syndrome

11/16/2015 - "The supporting evidence include the fact that central apnea in neonates correlates with immaturity of the CO2-sensing mechanism, and that congenital central hypoventilation syndrome (CCHS) is characterized by the absence of a ventilatory response to elevated PCO2. "
10/01/2014 - "The absence of RTN likely causes severe central apneas in congenital central hypoventilation syndrome. "
03/15/2014 - "A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea."
03/15/2014 - "A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea."
07/16/2003 - "Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined as failure of chemical control of breathing causing central alveolar hypoventilation, especially during sleep. "

04/01/2005 - "Congenital Central Hypoventilation Syndrome (CCHS) patients show partial retention of peripheral chemoreception despite impaired ventilatory responses to CO2 and hypoxia. "
03/01/2005 - "Hypoxia reveals posterior thalamic, cerebellar, midbrain, and limbic deficits in congenital central hypoventilation syndrome."
01/01/2005 - "Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder with failure of automatic control of breathing, defined by lack of an appropriate ventilatory response to hypercarbia and hypoxia. "
11/01/2004 - "Congenital central hypoventilation syndrome (CCHS) patients show impaired ventilatory responses to CO2 and hypoxia and reduced drive to breathe during sleep but retain appropriate breathing patterns in response to volition or increased exercise. "
04/01/2003 - "Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. "

12/01/2014 - "An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease."
09/01/2012 - "Infants presenting with congenital central hypoventilation syndrome should also be screened for Hirschsprung's disease."
09/01/2012 - "These clinical manifestations were compatible with congenital central hypoventilation syndrome and Hirschsprung's disease. "
09/01/2012 - "The association of congenital central hypoventilation syndrome (also known as Ondine's curse) and Hirschsprung's disease is termed Haddad syndrome, which is an extremely rare disorder. "
09/01/2012 - "Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant."

06/19/2014 - "Heterozygous germline mutations in PHOX2B, a transcriptional regulator of sympathetic neuronal differentiation, predispose to diseases of the sympathetic nervous system, including neuroblastoma and congenital central hypoventilation syndrome (CCHS). "
12/09/2004 - "Congenital Central Hypoventilation Syndrome was recently found to result from Phox2B mutations and two such patients in addition developed neuroblastoma. "
07/01/2005 - "Recent studies have shown that 1) PHOX2B is the main disease-causing gene for congenital central hypoventilation syndrome, an autosomal dominant disorder with incomplete penetrance; 2) PHOX2B is the first gene for which germline mutations have been demonstrated to predispose to neuroblastoma; and 3) Hirschsprung disease was associated with an intronic single-nucleotide polymorphism of the PHOX2B gene in a case-control study. "
08/01/2014 - "The result is abnormal neural crest cell development resulting in congenital central hypoventilation syndrome, Hirschsprung disease, and neuroblastoma (NB), which is often multifocal and disseminated in its presentation. "
01/01/2013 - "PHOX2B plays a key function in the development of neural crest derivatives, and heterozygous mutations cause a complex dysautonomia associating HSCR, Congenital Central Hypoventilation Syndrome (CCHS) and neuroblastoma (NB) in various combinations. "

10/01/2004 - "Primary alveolar hypoventilation syndrome combined with severe obstructive sleep apnea hypopnea syndrome in a post-middle-aged patient."
08/01/1993 - "We report a 71-year-old female patient with primary alveolar hypoventilation syndrome who received diaphragm pacing (DP) and developed obstructive sleep apnea syndrome (OSAS). "
01/01/1993 - "We applied spectral analysis through multivariant autoregressive model fitting [1] to RR interval (RRI) and respiratory (RES) oscillation obtained during quiet sleep in an infant with congenital central hypoventilation syndrome (Ondine's curse), a child with obstructive sleep apnea, and two healthy children. "
08/01/1981 - "Upper airway occlusion induced by diaphragm pacing for primary alveolar hypoventilation: implications for the pathogenesis of obstructive sleep apnea."
05/01/1999 - "Resolution of obstructive sleep apnea syndrome after adenoidectomy in congenital central hypoventilation syndrome."