Facial profile and additional features in fetuses with trisomy 21

Radhakrishnan, P and Nayak, Shalini S and Shukla, Anju and Katta, Girisha M (2018) Facial profile and additional features in fetuses with trisomy 21. Clinical Dysmorphology, 27 (4). pp. 126-129. ISSN 0962-8827

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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.

Item Type: Article
Uncontrolled Keywords: Down syndrome; Facial dysmorphism; Punctate calcifications; Trisomy 21
Subjects: Medicine > KMC Manipal > Obstetrics & Gynaecology
Depositing User: KMC Library
Date Deposited: 12 Jan 2019 09:04
Last Modified: 12 Jan 2019 09:04
URI: http://eprints.manipal.edu/id/eprint/152917

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