Ontology highlight
ABSTRACT:
SUBMITTER: Prothro SL
PROVIDER: S-EPMC5476418 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Prothro Stephanie L SL Plosa Erin E Markham Melinda M Szafranski Przemyslaw P Stankiewicz Pawel P Killen Stacy A S SA
The Journal of pediatrics 20151217
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare, lethal cause of neonatal respiratory failure and persistent pulmonary hypertension. We present a presumptive prenatal diagnosis of ACDMPV based on chorionic villus sampling of a FOXF1 mutation in a fetus with extra-pulmonary anomalies often associated with ACDMPV. ...[more]