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

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Down Syndrome
Fetus
Audiovisual Aids
Aneuploidy
Pregnancy

All Science Journal Classification (ASJC) codes

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

Cite this

Radhakrishnan, Periyasamy ; Nayak, Shalini S. ; Shukla, Anju ; Girisha, Katta M. / Facial profile and additional features in fetuses with trisomy 21. In: Clinical Dysmorphology. 2018 ; Vol. 27, No. 4. pp. 126-129.
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Facial profile and additional features in fetuses with trisomy 21. / Radhakrishnan, Periyasamy; Nayak, Shalini S.; Shukla, Anju; Girisha, Katta M.

In: Clinical Dysmorphology, Vol. 27, No. 4, 01.10.2018, p. 126-129.

Research output: Contribution to journalArticle

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