Neonatal respiratory failure associated with mutation in the surfactant protein C gene

J Perinatol. 2006 Jan 1;26(1):67-70. doi: 10.1038/


We report on a term newborn with an unusual presentation and course of a rare lung disease due to mutation in SFTPC gene. This particular SFTPC mutation is novel, and the infant's lung disease was unusually severe compared to what has been previously reported in association with SFTPC mutations.

Publication types

  • Case Reports

MeSH terms

  • Fatal Outcome
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*
  • Pulmonary Surfactant-Associated Protein C / genetics*
  • Pulmonary Surfactants / therapeutic use
  • Radiography
  • Respiration, Artificial
  • Respiratory Distress Syndrome, Newborn / diagnostic imaging
  • Respiratory Distress Syndrome, Newborn / genetics*
  • Respiratory Distress Syndrome, Newborn / therapy


  • Pulmonary Surfactant-Associated Protein C
  • Pulmonary Surfactants