Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.

Background: Most periventricular nodular heterotopias (PNHs) are associated with a mutation in the filamin A (FLNA) gene in Xq28. This condition is associated with cardiovascular malformations, connective tissue abnormalities, epilepsy, and intellectual deficiency of varying severity.

Materials And Methods: We report a new FLNA gene mutation in a male patient associated with PNH and diffuse interstitial lung disease.