Prenatal Diagnosis of Snijders Blok-Campeau Syndrome in a Fetus with Macrocephaly

Fetal Diagn Ther. 2021;48(5):407-410. doi: 10.1159/000514326. Epub 2021 May 17.

Abstract

We present the prenatal imaging and whole exomics sequencing with the newly described Snijders Blok-Campeau macrocephaly syndrome.

Keywords: Fetal brain; MRI; Macrocephaly; Snijders Blok-Campeau syndrome; Ultrasound; Whole-exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Exome Sequencing
  • Female
  • Fetus / diagnostic imaging
  • Humans
  • Megalencephaly* / diagnostic imaging
  • Megalencephaly* / genetics
  • Pregnancy
  • Prenatal Diagnosis*
  • Ultrasonography, Prenatal