Home|Journals Follow on Twitter| Subscribe to List

Directory for Medical Articles
 

Open Access

3

Med J Bakirkoy. 2012; 8(1): 44-46


Trisomy 18 syndrome: Case report

Ali Karaman, Hasan Kahveci, Fuat Laloğlu.

Abstract
In trisomy 18 (Edward’s) syndrome, which is one of the most common chromosomal disorders, most of the cases are lost during their first year of life because of severe cardiac pathologies. A female premature newborn with a weight of 1100 g was referred to our clinic by dyspnea. At the physical examination, low ears, high arched palate, migrognatia, short and webbed neck, microcephaly, şexed hand fingers and pes equinovarus of foot were present. At the echocardiography examination, patent ductus arteriosus has been detected. Herein we presented this case with Edward’s syndrome with clear clinical evidence in newborn period.

Key words: Trisomy 18 syndrome, newborn, pes equinovarus



Trizomi 18 sendromu: Olgu sunumu

Özet
Sık görülen kromozomal hastalıklardan biri olan trizomi 18 (Edward’s) sendromunda, olguların çoğu yaşamın ilk yılında ağır kardiyak patolojiler nedeniyle kaybedilmektedir. Solunum sıkıntısı nedeniyle kliniğimize getirilen 1100 g ağırlığında bir kız prematüre bebeğin muayenesinde, düşük kulak, yüksek damak, mikrognati, kısa ve yele boyun, mikrosefali, el parmaklarında şeksiyon ve ayağında pes ekinovarusu mevcuttu. Ekokardiografik incelemede, patent duktus arteriozus anomalisi tespit edildi. Burada yeni doğan döneminde belirgin klinik bulguları olan Edward sendromlu bir olguyu sunduk.

Anahtar Kelimeler: Trizomi 18 sendromu, yeni doğan, pes ekinovarus



Share this Article


Advertisement
Journal of Interdisciplinary Histopathology

SUBMIT YOUR ARTICLE NOW


ScopeMed.com
ScopeMed Home
Follow ScopeMed on Twitter
BiblioCAM
Author Tools
eJPort Journal Hosting
About ScopeMed
License Information
Terms & Conditions
Privacy Policy
Suggest a Journal
Publisher Login
Contact Us

The articles in Scopemed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
ScopeMed is a Database Service for Scientific Publications. Copyright © ScopeMed® Information Services.
Scopemed Buttons