• J Perinatol · Feb 2010

    Case Reports

    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, and L M Nogee.
    • Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA. Brandon.Poterjoy@drexelmed.edu
    • J Perinatol. 2010 Feb 1; 30 (2): 151-3.

    AbstractA 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.

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