title: 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.
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, USA.
authors.forename: V
authors.initials: V
authors.lastname: Bellamkonda-Athmaram
authors.affiliation: Department of Otolaryngology and Communication Sciences, Medical College of Wisconsin, Milwaukee, USA.
authors.forename: C G
authors.initials: CG
authors.lastname: Sulman
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, USA.
authors.forename: D G
authors.initials: DG
authors.lastname: Basel
authors.affiliation: Department of Pathology, Medical College of Wisconsin, Milwaukee, USA.
authors.forename: J
authors.initials: J
authors.lastname: Southern
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, USA.
authors.forename: G G
authors.initials: GG
authors.lastname: Konduri
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Milwaukee, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Basir
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001980:Bronchi / Q000473:pathology; D001999:Bronchoscopy; D003251:Constriction, Pathologic; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010547:Persistent Fetal Circulation Syndrome / Q000235:genetics*; D011650:Pulmonary Alveoli / Q000002:abnormalities* / Q000473:pathology; D011667:Pulmonary Veins / Q000002:abnormalities*; D012189:Retrospective Studies