Results 41 to 50 of about 10,609 (274)

Congenital anomalies in low- and middle-income countries: the unborn child of global surgery. [PDF]

open access: yes, 2014
Surgically correctable congenital anomalies cause a substantial burden of global morbidity and mortality. These anomalies disproportionately affect children in low- and middle-income countries (LMICs) due to sociocultural, economic, and structural ...
AF Uba   +53 more
core   +3 more sources

Omphalocele and gastroshisis: A 14-year study [PDF]

open access: yesScripta Medica, 2015
Introduction: Omphalocele and gastroschisis are developmental defects of the anterior abdominal wall, which have only recently been categorized as separate entities. In both cases, it is a herniation of abdominal organs through appropriate defects of the
Raković Mirko   +3 more
doaj  

15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies

open access: yesCase Reports in Pediatrics, 2018
Background. Omphalocele is a rare congenital abdominal wall defect. It is frequently associated with genetic abnormality and other congenital anomalies, although isolated omphalocele cases do exist.
Hui-Fang Zhou   +3 more
doaj   +1 more source

Omphalocele

open access: yesAndalas Obstetrics and Gynecology Journal, 2022
Objective: Reporting a case of omphalocele. Method: Case report. Result:Acaseofa32years-oldwoman, diagnosedwithG2P1A0H134-35weeksofpretermpregnancy+ previous Cesaran Section + omphalocele + fetal distress.
Revivo Rinda Pratama, Roza Sri Yanti
doaj   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato   +2 more
wiley   +1 more source

Omphalocele and patent omphalomesenteric duct: A case report

open access: yesJournal of Pediatric Surgery Case Reports
Introduction: The omphalomesenteric duct (OMD) is an embryonic structure that connects the yolk sac to the midgut. Under normal circumstances, it closes and self absorbes before birth.
Wassie Almaw Yigzaw   +2 more
doaj   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei   +10 more
wiley   +1 more source

Complex ventral hernia secondary to giant omphalocele managed by preoperative pneumoperitoneum and botulinum toxin: A case report

open access: yesJournal of Pediatric Surgery Case Reports, 2023
Introduction: Post-omphalocele ventral hernias pose significant challenges in pediatric surgery, often requiring multiple revision surgeries and carrying a high morbidity rate.
Mario Javier Peña García   +8 more
doaj   +1 more source

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

open access: yes, 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.   +2 more
core   +3 more sources

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

open access: yesEnvironmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons   +17 more
wiley   +1 more source

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