Article
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.
Archives of disease in childhood. Fetal and neonatal edition - 1 Jul 2020
Jourdan-Voyen Laurélia, Touraine Renaud, Masutti Jean-Pierre, Busa Tiffany, Vincent-Delorme Catherine, Dreyfus Lelia, Molin Arnaud, Savey Baptiste, Mounzer Abraham, Assaf Ziad, Atallah Veronique, da Cruz Vanessa, Gaillard Dominique, Leroy-Terquem Elise, Mouton Jean-Baptiste, Ghoumid Jamal, Picaud Jean-Charles, Dijoud Frederique, Bouquillon Sonia, Baumann Cédric, Lambert Laetitia
Abstract excerpt
OBJECTIVE: Alveolar capillary dysplasia (ACD) is one of the causes of pulmonary hypertension. Its diagnosis is histological but new pathogenetic data have emerged. The aim of this study was to describe a French cohort of patients with ACD to improve the comprehension and the diagnosis of this pathology which is probably underdiagnosed. METHODS: A retrospective observational study was conducted in French...
Topics
- Female
- Forkhead Transcription Factors
- Humans
- Infant, Newborn
- Lung
- Male
- Mutation
- Persistent Fetal Circulation Syndrome
- Pulmonary Alveoli