Facial profile and additional features in fetuses with trisomy 21

Clin Dysmorphol. 2018 Oct;27(4):126-129. doi: 10.1097/MCD.0000000000000234.

Abstract

Aneuploidies occur in about 5% of clinically recognized pregnancies. Facial gestalt is a vital tool for the clinical diagnosis of trisomy 21. Facial anomalies are subtle in fetal life and challenging for a clinician not familiar with perinatal dysmorphology. Here, we present the facial profile and additional features in six fetuses with Down syndrome as a visual aid. We present the facial photographs of six fetuses with genetically confirmed trisomy 21. These photographs will serve as a diagnostic aid for trisomy 21 in perinatal dysmorphology. We noted punctate calcifications in two fetuses with trisomy 21.

MeSH terms

  • Aneuploidy
  • Autopsy / methods
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / etiology
  • Down Syndrome / diagnostic imaging*
  • Down Syndrome / physiopathology
  • Face / abnormalities
  • Female
  • Fetus
  • Humans
  • Male
  • Pregnancy
  • Trisomy
  • Ultrasonography, Prenatal / methods