Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities

作者：Bellamkonda Athmaram V; Sulman C G; Basel D G; Southern J; Konduri G G; Basir M A^*

来源：Journal of Perinatology, 2014, 34(4): 326-328.

DOI：10.1038/jp.2013.175

• alveolar capillary dysplasia
• newborn infant
• anomaly
• airway
• bronchi

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.

• 出版日期2014-4