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

Prenat Diagn. 2022 Sep;42(10):1343-1345. doi: 10.1002/pd.6148. Epub 2022 Apr 28.

Abstract

What's already known?

  1. 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?

  1. CCND2 loss of function distal variants can cause fetal microcephaly.

MeSH terms

  • Cyclin D2
  • Female
  • Fetus / diagnostic imaging
  • Head / diagnostic imaging
  • Humans
  • Microcephaly* / diagnostic imaging
  • Nervous System Malformations*
  • Pregnancy
  • Pregnancy Trimester, Third
  • Prenatal Diagnosis
  • Ultrasonography, Prenatal

Substances

  • CCND2 protein, human
  • Cyclin D2