CHD7 and Cowden syndrome 1: The clinical features including heart disease, retarded growth, genital agenesis, et al., and clinical penetrance vary widely.12 Heterozygous variants in CHD7 have been found to be associated with IHH or CS.13–16 The mutation detected in our study is not included at the CHARGE Syndrome mutation website (www.CHD7.org), and no relevant literature reports were found.