[CHARGE syndrome in a neonate].

Abstract excerpt

A female infant, aged 11 days, was admitted due to dyspnea for 11 days after birth, with the main clinical manifestations of inspiratory dyspnea, feeding difficulties, and unusual facies (micrognathia, high palatal arch, cleft palate, glossoptosis, and oblique mouth to the right), and the preliminary diagnosis was Pierre-Robin syndrome. There was no marked improvement after treatment such as ventilator-assisted...

Topics

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• Infant, Newborn
• Mutation
• DNA Helicases
• CHARGE Syndrome
• DNA-Binding Proteins