Acta Scientific Paediatrics (ISSN: 2581-883X)

Case Report Volume 4 Issue 10

Edwards Syndrome - A Rare Trisomy

Márcio Luís Duarte1,2, Thaís Amanda Frank de Almeida Alves3, Marco Antonio Alves Braun3, Lucas Ribeiro dos Santos2,3 and Élcio Roberto Duarte4*

1WEBIMAGEM TELERRADIOLOGIA, Santos, São Paulo, Brazil
2Master Degree in Evidence-Based Health at UNIFESP, São Paulo, São Paulo, Brazil
3Faculdade de Ciências Médicas de Santos, Santos, São Paulo, Brazil
4Irmandade da Santa Casa de Misericórdia de Santos, Santos, São Paulo, Brazil

*Corresponding Author: Élcio Roberto Duarte, Irmandade da Santa Casa de Misericórdia de Santos, Av. Dr. Cláudio Luiz da Costa, Jabaquara, Santos - SP, Brazil.

Received: August 13, 2021 Published: September 26, 2021

Citation: Élcio Roberto Duarte., et al. “Edwards Syndrome - A Rare Trisomy". Acta Scientific Paediatrics 4.10 (2021): 78-82.

Abstract

  Chromosome 18 trisomy is a chromosomal disorder due to the presence of an extra 18 chromosome, mosaic trisomy, or partial 18q trisomy. The prevalence of live births is estimated at 1: 6000-1: 8000. The ultrasound is vital for the suspicion of chromosome 18 trisomy, especially when the changes refer to the clenched fists with overlapping fingers. However, the diagnosis of certainty is still the karyotype because, in some cases, changes may not be seen on ultrasound examination. We report a case of a 39 years-old woman perform an obstetric ultrasound at about 22 weeks showed the “lemon head” sign and constantly clenched fists of the fetus during the exam, suspecting Edwards Syndrome. After birth, at physical examination, the fists clenched with the fingers of both hands. The karyotype confirmed the trisomy of chromosome 18.

Keywords: Fetus; Infant; Newborn; Trisomy 18 Syndrome; Ultrasonography; Prenatal Care

Bibliography

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Copyright: © Élcio Roberto Duarte., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



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