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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.
- Table - PMC - National Center for Biotechnology Information
Congenital Central Hypoventilation Syndrome (CCHS) is a rare...
- Role of calretinin immunohistochemical stain in evaluation of ...
Introduction. Hirschsprung’s disease is a congenital defect...
- Central Alveolar Hypoventilation Syndromes - PMC - National Center for ...
Trochet and colleagues 31 have proposed that onset of...
- Congenital central hypoventilation syndrome: diagnostic and management ...
Congenital central hypoventilation syndrome (CCHS) is a rare...
- Late-onset central hypoventilation syndrome: a family genetic study
Congenital central hypoventilation syndrome is a rare...
- Late-onset congenital central hypoventilation syndrome and a rare ...
Congenital central hypoventilation syndrome. A greater...
- Table - PMC - National Center for Biotechnology Information
The present study of a unique family confirms that transmission of late-onset congenital central hypoventilation syndrome is autosomal dominant in nature. A mutation in the PHOX2B gene has recently been identified.
1 Δεκ 2008 · Trochet and colleagues 31 have proposed that onset of hypoventilation after the newborn period (28 days of life) be classified as late-onset congenital hypoventilation syndrome. The common clinical features of CCHS are presented in Table 1 .
18 Αυγ 2016 · Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder with failure of central control of breathing and of the autonomic nervous system function due to a mutation in the paired-like homeobox 2B (PHOX2B) gene.
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system with the hallmark presentation of hypoxemic, hypercapnic respiratory failure due to abnormal central respiratory control.
Congenital central hypoventilation syndrome is a rare disorder characterised by chronic alveolar hypoventilation, which becomes more pronounced during sleep and may be associated with neurocristopathies, such as Hirchsprung's disease. A mutation in the PHOX2B gene has recently been identified.
Congenital central hypoventilation syndrome. A greater awareness is required to diagnose late-onset CCHS. A respiratory infection can trigger the disease, with a significant difference in CO2 between sleep and wakefulness as the warning signal.
