“…Among ACS patients, there is a high degree of inter- and intra-familial phenotypic variation, including non-penetrance [Gordon et al, 2013; Ozturk et al, 2005; Rieder et al, 2012]. Isolated QME (IQME, OMIM 612798), where the range of ear dysmorphism is very similar to that in ACS, has also been reported in isolated and familial cases with an autosomal dominant mode of inheritance, and might represent a milder form of ACS [Al-Qattan, 1998; Brodovsky and Westreich, 1997; Cosman et al, 1970; Fumiiri and Hyakusoku, 1983; Pan et al, 2010; Park, 1998; Posso et al, 2011; Shkalim et al, 2008; Takato et al, 1989; Vayvada et al, 2005; Vincent et al, 1961]. …”