Prune Belly Syndrome and Heart Defect in One of Monozygotic Twins, Following Exposure to Tigan and Bendectin

1985 ◽  
Vol 34 (1-2) ◽  
pp. 101-104 ◽  
Author(s):  
C. Greene ◽  
A. Wilson ◽  
E. Shapira
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Monozygotic Twins ◽  
Hla Typing ◽  
Prune Belly Syndrome ◽  
Red Cell ◽  
Review Of The Literature ◽  
Monozygotic Twinning ◽  
Prune Belly ◽  
Heart Defect

AbstractOne of twins was bom with prune belly syndrome and congenital heart defect following exposure to Bendectin and Tigan. Red cell antigens and HLA typing were compatible with monozygosity. The possible associations of the prune belly syndrome to monozygotic twinning or to teratogenic agents is considered in light of this patient and review of the literature.

scholarly journals Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy

PLoS ONE ◽  
2014 ◽  
Vol 9 (6) ◽  
pp. e100191 ◽  
Author(s):  
Pongsathorn Chaiyasap ◽  
Supasak Kulawonganunchai ◽  
Chalurmpon Srichomthong ◽  
Sissades Tongsima ◽  
Kanya Suphapeetiporn ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Congenital Heart Defect ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Monozygotic Twins ◽  
Whole Genome ◽  
Heart Defect

scholarly journals A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature

2019 ◽  
Vol 32 (9) ◽  
pp. 1027-1030 ◽  
Author(s):  
Odile Gaisl ◽  
Daniel Konrad ◽  
Pascal Joset ◽  
Mariarosaria Lang-Muritano
Keyword(s):  
Diaphragmatic Hernia ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Neonatal Diabetes ◽  
Short Review ◽  
Review Of The Literature ◽  
Mild Phenotype ◽  
Heart Defect

Abstract GATA6 gene variants come along with possible features such as pancreas agenesis/hypoplasia, neonatal diabetes and congenital heart defect. Congenital hypothyroidism, and hepatobiliary and gut abnormalities are also detectable. Children with congenital heart defects and neonatal diabetes were already described in 1970. GATA6 variants can be due to de novo variants or due to inherited variants. To date, 11 cases due to an inherited variant have been described. Herein we present a novel heterozygous GATA6 variant (c.1291C > T p.[Gln431*]) in a boy with transient neonatal diabetes, diaphragmatic hernia, congenital heart defect and early-onset scoliosis. The same variant was also present in the mother. At the age of 3 years, a random evaluation revealed a hemoglobin A1c (HbA1c) level of 7.8% (62 mmol/mol) without any diabetes-related symptoms. He was started on insulin therapy and HbA1c normalized. A short review of the literature of hereditary cases of the GATA6 variant revealed the variable phenotypic spectrum and showed that patients with a mild phenotype are likely to have children with a more severe phenotype.

Congenital heart defect in sibs with discordant karyotypes

1998 ◽  
Vol 80 (2) ◽  
pp. 169-172 ◽  
Author(s):  
Maria Cristina Digilio ◽  
Bruno Marino ◽  
Salvatore A. Canepa ◽  
Umberto Borzaga ◽  
Aldo Giannotti ◽  
...  
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Heart Defect

A closer look at the brain of newborn infants with a congenital heart defect

Neurology ◽  
2013 ◽  
Vol 81 (3) ◽  
pp. 204-205
Author(s):  
S. O. Algra ◽  
L. S. de Vries
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Newborn Infants ◽  
Heart Defect ◽  
The Brain

scholarly journals Mountain climbing of the grown-up patient with non-corrected congenital heart defect

2016 ◽  
Vol 1 ◽  
pp. 68-71
Author(s):  
Ireneusz Haponiuk ◽  
Katarzyna Gierat-Haponiuk ◽  
Dominika Szalewska ◽  
Piotr Niedoszytko ◽  
Stanisław Bakuła ◽  
...  
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Mountain Climbing ◽  
Heart Defect
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