Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities

Abstract

Alveolar capillary dysplasia is a rare and fatal disease of newborn infants. Here we describe a patient with alveolar capillary dysplasia, multiple congenital anomalies, a novel genetic mutation and previously undocumented airway findings on bronchoscopy. Knowledge of these associations may help diagnose this rare disorder in neonates with hypoxemic respiratory failure. © 2014 Nature America, Inc.