Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene

B. S. Poterjoy, Y. Vibert, M. Sola-Visner, J. McGowan, G. Visner, L. M. Nogee

Research output: Contribution to journalArticlepeer-review

Abstract

A full-term infant developed respiratory distress immediately after birth, requiring a prolonged course of extra-corporeal membrane oxygenation, followed by high-frequency ventilation. She was unable to wean off mechanical ventilation, required tracheostomy, and ultimately lung transplantation. A novel mutation in the surfactant C protein gene was identified as the cause of her lung disease.

Original languageEnglish (US)
Pages (from-to)151-153
Number of pages3
JournalJournal of Perinatology
Volume30
Issue number2
DOIs
StatePublished - Feb 2010

Keywords

  • ECMO
  • Gene mutation
  • Lung transplant
  • Neonate
  • Respiratory failure
  • Surfactant protein C

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

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