BCOR and microphthalmia, syndromic 2: CC with CHD is often reported in rare syndromes with well-defined genetic or chromosomal mutations or in syndromes resulting from intrauterine infection, such as OFCD syndrome caused by BCOR mutations [10], recurrent rearrangements of chromosome 1q21.1 [28], Down's syndrome [14], and congenital rubella syndrome [15].