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.
Ladd syndrome: a case report of uncommon respiratory findings
Roberto G.;Andrenacci B.;De Filippo M.;Votto M.;Licari A.;Marseglia G. L.
2023-01-01
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.File in questo prodotto:
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