Proceedings from the First International Symposium on the Congenital Central Hypoventilation Syndrome held in New Orleans, LA, on May 11, 1996

Gozal, David; Gaultier, Claude

doi:10.1002/(sici)1099-0496(199702)23:2<133::aid-ppul13>3.0.co;2-9

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Congenital Central Hypoventilation Syndrome2

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Cited by 8 publications

(2 citation statements)

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“…Congenital central hypoventilation syndrome (CCHS), previously known as the Ondine curse, is characterized by a failure of automatic control of breathing. [2][3][4][5][6][7] A mutation in the PHOX2B gene causes CCHS. 8,9 Although the exact incidence is not known, the disease is rare.…”

Section: Congenital Central Hypoventilation Syndromementioning

confidence: 99%

Congenital Hypoventilation Syndromes

Lesser

Ward²,

Kun³

et al. 2009

Semin Respir Crit Care Med

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Although rare, congenital hypoventilation syndromes profoundly impact affected patients and families. In some diseases, such as congenital central hypoventilation syndrome (CCHS), hypoventilation is a key presenting feature. Ventilatory abnormalities may not be immediately evident in other disease states. The clinical aspects of several pediatric hypoventilation syndromes, including CCHS, Chiari type II malformation, Prader-Willi syndrome, familial dysautonomia, and rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation are presented.

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Section: Congenital Central Hypoventilation Syndromementioning

confidence: 99%

Congenital Hypoventilation Syndromes

Lesser

Ward²,

Kun³

et al. 2009

Semin Respir Crit Care Med

View full text Add to dashboard Cite

show abstract

“…Diagnostic criteria generally require persistent evidence of hypoventilation during sleep with Paco 2 Ͼ 60 mm Hg. Onset of symptoms typically is in the first year of life, 116,117 and may present in the neonate. 118 To be certain of the diagnosis, it is necessary to rule out primary cardiac or pulmonary disease as well as neuromuscular dysfunction.…”

Section: Congenital Central Alveolar Hypoventilation Syndromementioning

confidence: 99%