Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11

The diagnosis success rates for developmental disorders have greatly improved in the last years mainly due to the widespread use of DNA next- generation sequencing. Nevertheless, several studies have stressed the importance of a critical reconsideration of genetic results and a further implementation of protocols for variant- level reevaluation and case- level reanalysis (Deignan et al., 2019). This is es-pecially relevant in the context of syndromes, such as the chromatinopathies Cornelia de Lange syndrome (CdLS, OMIM#122470) and KBG syndrome (KBGS, OMIM #148050), with overlapping phenotypes that may evolve over time (Parenti et al., 2021). Here, we present a chal-lenging familiar case reanalyzed in which phenotypic features of both KBGS and CdLS are observed, and where genetic variants in ANKRD11 and NIPBL were identified (...)