Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in afetus with a CCND2 inverse growth variant.

Abstract

Key points What's already known? Variants in CCND2 gene are known to cause syndromic macrocephaly. Recently inverse growth proximal variants were described in five individuals with microcephaly. What does this study add? CCND2 loss of function distal variants can cause fetal microcephaly.