1.
J Perinatol
; 34(4): 326-8, 2014 Apr.
Article
in English
| MEDLINE
| ID: mdl-24675018
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.