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21 Σεπ 2020 · Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS.
28 Ιαν 2004 · Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control.
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) due to a mutation in the paired-like homeobox 2B (PHOX2B) gene. 1 CCHS patients usually present in the newborn period with apnea, hypoxemia, and hypercapnia without clinical signs of respiratory compromise that occur and are most ...
Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characterized by impaired autonomic control of breathing during sleep from the loss of vagal input and diminished sensitivity of CO 2 receptors in the medulla.
13 Ιουλ 2020 · Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy characterized by sleep apnea and an autonomic nervous system dysfunction in the neonatal period; it was first reported by Mellins et al. in 1970 [1]. The estimated incidence of CCHS is approximately 1 in 200,000 live births [2].
27 Σεπ 2016 · CCHS is a neurocristopathy characterized by hypoventilation and ANS dysregulation. Initially described in 1970, timely diagnosis and treatment remained problematic until the first large cohort...
21 Σεπ 2020 · Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS.
