We report a patient with severe neonatal respiratory distress syndrome (RDS), recurrent respiratory failure episodes in infancy, pituitary anatomical and functional anomalies, and mild neurological symptoms suggestive of brain-lung-thyroid syndrome, in which extensive surfactant-related gene sequencing failed to identify identified NKX2.1 mutations and showed only a previously unreported ABCA3 missense mutation carried in heterozygosis. The gene discussed is ABCA3; the disease is newborn respiratory distress syndrome.