Thoracoabdominal Ectopia Cordis With Mosaic Turner's Syndrome: Report of a Case

PEDIATRICS ◽  
1978 ◽  
Vol 62 (2) ◽  
pp. 218-221
Author(s):  
Arthur Garson ◽  
Edith P. Hawkins ◽  
Charles E. Mullins ◽  
Sam B. Edwards ◽  
David C. Sabiston ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Ectopia Cordis ◽  
Syndrome Report

A child was treated for thoracoabdominal ectopia cordis and an associated chromosomal defect. Contrary to most cases in which death is due to the externally situated heart and abdominal viscera, this patient died from congenital heart disease.

scholarly journals 2q13 microdeletion syndrome: report on a newborn with additional features expanding the phenotype

2021 ◽  
Author(s):  
Ettore Piro ◽  
Gregorio Serra ◽  
Mario Giuffrè ◽  
Mandy Schierz ◽  
Giovanni Corsello
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Microdeletion Syndrome ◽  
2Q13 Deletion ◽  
Syndrome Report

In this paper we describe an additional newborn patient with craniofacial dysmorphisms, congenital heart disease, hypotonia and a 2q13 deletion of 1.7 Mb, whose clinical and genomic findings are consistent with the diagnosis of 2q13 microdeletion syndrome.

scholarly journals Ectopia cordis: a case report

2014 ◽  
Vol 14 (3) ◽  
pp. 287-290 ◽  
Author(s):  
Gonçalo Filipe Infante Mesquita Dias ◽  
Ana Vanessa dos Reis Santos ◽  
Cátia Filipa Cabrita Paixão Martins ◽  
Ana Paula Duarte Ferreira ◽  
Joaquim Marques Dinis da Fonseca
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Fetal Echocardiography ◽  
Anterior Chest Wall ◽  
Personal History ◽  
Pathological Examination ◽  
Fetal Ultrasound ◽  
Ectopia Cordis ◽  
Severe Congenital Heart Disease

Introduction: ectopia cordis is a rare congenital malformation, with an estimated incidence of 5 to 8 per million live births. It is defined as a malformation in which the heart is located in an extra-thoracic position. Ectopia cordis may occur as an isolated malformation or associated with other anomalies such as omphalocele, congenital heart disease or integrating Cantrell syndrome. The size and location of the defect influence the prognosis. Description: we report a case of a 24-year-old nulliparous woman, with no relevant family or personal history, in which the prenatal fetal ultrasound, performed at 21 weeks of gestation, revealed adefect of the anterior chest wall with exteriorization of the heart. Discussion: fetal echocardiography revealed a severe congenital heart disease. The parents decided to continue the pregnancy, after being duly informed by a multidisciplinary team. Delivery occurred at 37 weeks of gestation but the female newborn died one hour afterwards. Pathological examination confirmed the sonographic findings.

scholarly journals Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease

2014 ◽  
Vol 15 (4) ◽  
pp. 393-398 ◽  
Author(s):  
Rabah M. Shawky ◽  
Heba Salah Abd-Elkhalek Elabd ◽  
Radwa Gamal ◽  
Shaimaa Abdelsattar Mohammad ◽  
Shaimaa Gad
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Additional Patient ◽  
Gorlin Syndrome ◽  
Syndrome Report
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