Results 31 to 40 of about 10,291 (172)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Experiences of symptom burden among young children born with esophageal atresia–tracheoesophageal fistula: a US focus group study

Orphanet Journal of Rare Diseases
Background Children born with esophageal atresia–tracheoesophageal fistula (EA–TEF) can suffer from aerodigestive morbidity that impairs their quality of life and can persist into adulthood.
Michaela Dellenmark-Blom, John Bennett, Rosella Micalizzi, Lianne Cole, Kaylee Woods, Lauren Cardoni, Leah Frain, Abdimajid Mohamed, Jessica Yasuda, Peter Ngo, Anke Widenmann, Graham Slater, Benjamin Zendejas   +12 more
doaj   +1 more source

Generation of three induced pluripotent stem cells lines from patients with esophageal atresia/tracheoesophageal fistula type C

Stem Cell Research, 2022
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is the most common congenital anomaly of the upper gastrointestinal tract affecting 1 in 3,000 which could stem from a developmental anomaly of the foregut. The cause is not fully understood.
Suleen Raad, Anu David, Wendy Chung, Christophe Faure   +3 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Double Bubble Sign in Early Pregnancy: A Case Report of the Sign of Double Trouble

Journal of Medical Ultrasound
A fetal double bubble sign in early pregnancy should prompt the sonographer to consider the concomitant presence of duodenal atresia and esophageal atresia.
Priyanka Karine, Michael Krivanek, Roshini Nayyar, James Christie, Kate Landau, Maria-Elisabeth Smet   +5 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Esophageal Atresia

, 2021
Esophageal atresia and esophageal duplication are the most common malformations of the esophagus, the first is the most common gastrointestinal atresia, generally isolated but can often be associated with other malformative syndromes (VACTERL, CHARGE); the second, on the other hand, is a more rare and isolated malformation that generally is not ...
Mattioli G., Palo F.
openaire   +3 more sources

Peculiarities of surgical treatment of gastrointestinal tract combined congenital malformations in newborns

Zaporožskij Medicinskij Žurnal, 2017
Congenital gastrointestinal (GI) malformations make up 21–25 % of all congenital anomalies and require surgical correction in the neonatal period. The aim was to analyze the methods of operative treatment of hard composite congenital gastrointestinal ...
М. О. Makarova
doaj   +1 more source

Case Report: Congenital diaphragmatic hernia associated with esophageal atresia and tracheoesophageal fistula

Frontiers in Surgery, 2023
The coexistence of congenital diaphragmatic hernia and esophageal atresia with or without tracheoesophageal fistula is extremely rare; only 36 cases have been reported.
Feihong Zhang, Feihong Zhang, Yang Wu, Li Zhang, Li Zhang, Bin Xia, Bin Xia   +6 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source