Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression.
Misalignment of pulmonary veins with alveolar capillary dysplasia is recognized as a rare cause of persistent pulmonary hypertension of the neonate. Until now, misalignment of pulmonary veins was thought to be a random occurrence, but its appearance in siblings at our institution suggests that there may be a familial predisposition. There have been reports of variable expression and variable severity in this disease; our report describes this variability in family members.
Boggs
S
S
Division of Neonatology, University of Pennsylvania School of Medicine, Philadelphia.
Harris
M C
MC
Hoffman
D J
DJ
Goel
R
R
McDonald-McGinn
D
D
Langston
C
C
Zackai
E
E
Ruchelli
E
E
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002196:Capillaries / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008168:Lung / Q000098:blood supply / Q000473:pathology; D008297:Male; D010547:Persistent Fetal Circulation Syndrome / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D011650:Pulmonary Alveoli / Q000098:blood supply* / Q000473:pathology; D011667:Pulmonary Veins / Q000002:abnormalities*