Ontology highlight
ABSTRACT:
SUBMITTER: Ma Y
PROVIDER: S-EPMC5368159 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Yonsei medical journal 20170501 3
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by mutations in FOXF1. Herein, we describe a newborn boy with ACD/MPV carrying a novel pathogenic variant of FOXF1. The patient developed respiratory distress and severe pulmonary hypertension on the first day of life. Despite aggressive cardiorespiratory management, including veno-venous extracorpo ...[more]