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.
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The authors declare no conflict of interest.
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Bellamkonda-Athmaram, V., Sulman, C., Basel, D. et al. Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities. J Perinatol 34, 326–328 (2014). https://doi.org/10.1038/jp.2013.175
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