Cardioacrofacial dysplasia 1: a case report and literature review

To our knowledge, this expands the known geographic distribution with <i>PRKACA</i> c.409G>A (p.Gly137Arg). The finding adds to prior reports that repeatedly implicate this variant; broader ascertainment is needed to establish whether it represents a true hotspot. In patients with an EvC-like phenotype who test negative for <i>EVC/EVC2</i>, screening of <i>PRKACA</i> can be considered. Prior work suggests that increased protein kinase A (PKA) catalytic activity may dampen Hedgehog (Hh) signaling, providing a plausible mechanism for the skeletal and cardiac findings. Early molecular diagnosis facilitates multidisciplinary management and genetic counseling.