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Article

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

BMJ case reports - 19 Mar 2021

Anand Neesha, Leu Roberta M, Simon Dawn, Kasi Ajay S

Abstract excerpt

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 indicative of respiratory acidosis and serum bicarbonate was elevated at 35 mmol/L. Chest radiograph, echocardiogram...

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Identifiers

PMID: 33741569
DOI: 10.1136/bcr-2020-239633
PMCID: PMC7986671

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