Unexplained neonatal respiratory distress due to congenital surfactant deficiency.

Somaschini, Marco; Nogee, Lawrence M; Sassi, Isabella; Danhaive, Olivier; Presi, Silvia; Boldrini, Renata; Montrasio, Cristina; Ferrari, Maurizio et al. · J Pediatr · 2007

case_series · Level IV

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Abstract

Genetic abnormalities of pulmonary surfactant were identified by DNA sequence analysis in 14 (12 full-term, 2 preterm) of 17 newborn infants with fatal respiratory distress of unknown etiology. Deficiency of adenosine triphosphate-binding cassette protein, member A3 (n = 12) was a more frequent cause of this phenotype than deficiency of surfactant protein B (n = 2).

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