Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant

Inherited disorders of surfactant metabolism are manifested in neonatal period as a severe respiratory failure not responding to exogenous surfactant administration. we illustrate the case of a term newborn with respiratory failure because of compound heterozygous mutation in adenosine triphosphate-binding cassette transporter a3 (abca3)—in exon 24 m1227r and in exon 29 ins1510fs/ter1519. these mutations of abca3 have not been described yet and expand the group of lethal abca3 variants.