“…The main cause of lip pits present in VWS is thought to be notching of the lip with fixation of the tissue at the base of the notch or failure of a complete union of the embryonic lateral sulci of the lip, at an early stage of the labial development (Deshmukh et al, ; Ural, Bilgen, Cakmakli, & Bekerecioglu, ). The phenotypes of both lip pits and CL/P show variable forms, even in the same family the manifestations of the patients are different though they carry the same mutation in IRF6 , which is in accordance with previous studies (Butali et al, ; de Lima et al, ; Tan, Lim, Lim, & Lee, ), and the reason may be epigenetic modification of DNA in IRF6 . By comparing the phenotypes and genotypes among the six VWS families, we observed that the type of mutation has no correlation in predicting the severity of this disease, which was similarly described in a previous study (Butali et al, ).…”