Additionally, we found a frameshift mutation in RECQL4, a gene involved in three recessive syndromes with overlapping features, the Rothmund-Thomson syndrome (RTS; OMIM #268400), the Baller-Gerold syndrome (BGS; OMIM #218600), and the RAPADILINO syndrome (OMIM #266280). This evidence concerns the gene RECQL4 and Rothmund-Thomson syndrome.