Results 81 to 90 of about 355,187 (399)

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

Ectopia cordis : a report of two cases in Cameroon [PDF]

, 2014
This article reports two cases of ectopia cordis in two children aged one day and twenty months respectively. A one day old newborn had complete thoracic ectopia cordis associated with an internal cardiac defect and severe thoracic and abdominal wall ...
Chelo, David, Koki Ndombo, Paul O., Mbassi Awa, Hubert Desire, Menanga, Alain P., Nde Kamgne, M., Ngo Um, Suzanne, Nguefack Dongmo, Felicitee   +6 more
core   +1 more source

Sociodemographic Factors and Survival of Infants With Congenital Heart Defects

Pediatrics, 2018
Using birth defects surveillance data linked to census and vital records, we examine sociodemographic differences in first-year survival among infants with CHDs.
Nelson D Pace, M. Oster, Nina E Forestieri, Dianne Enright, Jessica H Knight, R. Meyer   +5 more
semanticscholar   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

CLINICAL CHARACTERISTICS OF PREGNANT WOMEN WITH ISOLATED CONGENITAL HEART DEFECTS IN THE FETUS

Медична наука України, 2021
Relevance. Cardiovascular pathology today remains one of the main causes of morbidity, mortality and early disability in populations; occupies a leading place among developmental defects in children (up to 30 %).
Y.V. Dudierina, D.O. Govsieiev, V.O. Galagan, A.K. Kurkevych   +3 more
doaj   +1 more source

Ethnical variations in the incidence of congenital heart defects in Gorgan, Northern Iran: A single-center study [PDF]

, 2014
Background: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran.
Golalipour, M.J., Nikyar, A., Nikyar, B., Qorbani, M., Sedehi, M.   +4 more
core  

Adverse social determinats and risk for congenital anomalies [PDF]

, 2014
INTRODUCCIÓN: Diferentes trabajos han relacionando condiciones sociales adversas a nivel familiar y regional con resultados perinatales (mortalidad neonatal, bajo peso y prematuridad); sin embargo, pocos estudiaron el efecto de la pobreza sobre anomalías
Campaña, Hebe, Comas, Belén, Gili, Juan Antonio, Gimenez, Lucas Gabriel, López Camelo, Jorge Santiago, Pawluk, Mariela Soledad, Poletta, Fernando Adrián, Scala, Sandra C., Villalba, María Inés   +8 more
core   +3 more sources

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Oral Clefts with Associated Anomalies: Findings in the Hungarian Congenital Abnormality Registry [PDF]

, 2005
BACKGROUND: Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data
Czeizel, Andrew E., Sárközi, Andrea, Wyszynski, Diego F   +2 more
core   +3 more sources

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player

Genes, 2016
Congenital heart defects (CHDs) represent the biggest fraction of morbid congenital anomalies worldwide. Owing to their complex inheritance patterns and multifactorial etiologies, these defects are difficult to identify before complete manifestation ...
I. Chung, G. Rajakumar
semanticscholar   +1 more source