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.

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 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
Sign in / Sign up

Export Citation Format

Share Document