Imaging of Congenital Craniofacial Anomalies and Syndromes

Clin Perinatol. 2022 Sep;49(3):771-790. doi: 10.1016/j.clp.2022.04.005. Epub 2022 Aug 22.


Craniofacial malformation is one of the most commonly encountered birth defects in the prenatal and postnatal periods. Higher-resolution and 3D antenatal ultrasonography and multidetector computed tomographic scan with 3D reformatted images have improved the definition of the soft tissue and bone structures of the craniofacial anatomy and its malformations. Early diagnosis of these conditions is important to make the clinical decisions and more so in understanding the possibility of malformation recurring in the next pregnancy, which is one of the major concerns for the parents and the treating physicians.

Keywords: Branchial arch syndromes; CHARGE syndrome; Craniostenosis; Facial clefting; Midface anomalies.

Publication types

  • Review

MeSH terms

  • Craniofacial Abnormalities* / diagnostic imaging
  • Female
  • Humans
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal*