Facial profile and additional features in fetuses with trisomy 21

Periyasamy Radhakrishnan, Shalini S. Nayak, Anju Shukla, Katta M. Girisha

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)126-129
Number of pages4
JournalClinical Dysmorphology
Volume27
Issue number4
DOIs
Publication statusPublished - 01-10-2018

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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