FLNA and skeletal dysplasia: FLNA mutations can cause several severe syndromes, including periventricular nodular heterotopias, otopalatodigital syndromes, skeletal dysplasia, lung involvement, and cardiovascular abnormalities (Sankararaman et al., 2013; van der Werf et al., 2013; Deng et al., 2020; Meliota et al., 2021).