Ladd syndrome: a case report of uncommon respiratory findings

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.

Received: 10 Jan, 2023
Accepted: 24 Jan, 2023
Published: Mar 1, 2023