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Recurrent apnoea and respiratory failure in an infant: congenital central hypoventilation syndrome with a novel PHOX2B gene variant

A 20-day-old term infant presented with recurrent apnoea, lethargy and respiratory failure. Examination revealed episodes of apnoea and desaturation to 85% without any signs of respiratory distress requiring initiation of non-invasive positive pressure ventilation (NPPV). Capillary blood gas was ind...

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Detalles Bibliográficos
Publicado en:BMJ Case Rep
Main Authors: Anand, Neesha, Leu, Roberta M, Simon, Dawn, Kasi, Ajay S
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2021
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7986671/
https://ncbi.nlm.nih.gov/pubmed/33741569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-239633
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