Ladd syndrome: a case report of uncommon respiratory findings
Giulia Roberto, Beatrice Andrenacci, Maria De Filippo, Martina Votto, Amelia Licari, Gian Luigi Marseglia
Case Report, 32-37
ABSTRACT
Lacrimo-auriculo-dento-digital (LADD) syndrome is a rare genetic disorder caused by mutations in fibroblast growth factor (FGF) or FGF receptors. Specifically, FGF10 regulates multiple stages of structural lung morphogenesis, cellular differentiation, and response to lung injury. In case of its dysfunction, an abnormal pulmonary development with alveolar disruption can occur. Here we report the clinical case of a patient with LADD syndrome with pulmonary impairment and history of spontaneous pneumothorax.
IMPACT STATEMENT
A single-center experience in the diagnosis and management of respiratory disease in a patient with LADD syndrome, with the aim to review the pathogenic hypotheses and suggest a practical algorithm for standardized clinical management.
Table of Contents: Vol. 1, n. 1, March 2023
Mario La Rosa, Giovanni Piedimonte, Joseph Bellanti
Editorial, p.p. 3-3
Giuseppe Fabio Parisi, Maria Papale, Sara Manti, Santiago Presti, Federico Mollica, Novella Rotolo, Salvatore Leonardi
Perspective, p.p. 4-15
Maria Di Cicco, Alessandra Beni, Vincenzo Ragazzo, Diego G. Peroni
Review, p.p. 16-25
Angelo Barbato, Andrew Bush
Review, p.p. 26-31
Giulia Roberto, Beatrice Andrenacci, Maria De Filippo, Martina Votto, Amelia Licari, Gian Luigi Marseglia
Case Report, p.p. 32-37
Salvatore Fasola, Laura Montalbano, Velia Malizia, Rosalia Gagliardo, Maria Rosa D’Anna, Sofia Tagliaferro, Sandra Baldacci, Sara Maio, Isabella Annesi-Maesano, Giovanni Viegi, Stefania La Grutta
Research Article, p.p. 38-47
