De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review

To our knowledge, this is the first reported case of CS with polydactyly in a very preterm infant at approximately 28 weeks gestation. Furthermore, we summarized the clinical and genetic findings of previously reported cases with overlapping CS and IHH phenotypes. This study expands the clinical phenotypes of CHD7-related disorders and provides new insights into early diagnosis, management, and future research on the relationship between CS and IHH.