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Related Concept Videos

Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Aneurysm I: Introduction01:30

Aneurysm I: Introduction

An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

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Related Experiment Video

Updated: Jun 4, 2026

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System

Published on: May 5, 2018

Common congenital anomalies.

R B Lowry

    Canadian Family Physician Medecin De Famille Canadien
    |January 29, 2011
    PubMed
    Summary
    This summary is machine-generated.

    Congenital anomalies are a significant cause of childhood illness and death, affecting about 3% of newborns. This review covers the diagnosis and management of common birth defects, including genetic factors.

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    Implantation of Total Artificial Heart in Congenital Heart Disease

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    Area of Science:

    • Pediatrics
    • Medical Genetics
    • Public Health

    Background:

    • Congenital anomalies represent a major cause of infant morbidity and mortality, increasing in relative importance due to decreased infectious disease and birth trauma.
    • Approximately 3% of newborns present with serious, potentially lethal conditions, with long-term studies revealing higher frequencies.
    • Despite common perception, current evidence does not indicate an increasing trend in congenital anomaly rates.

    Purpose of the Study:

    • To review the diagnosis and management of common congenital anomalies in children.
    • To highlight the genetic implications associated with these birth defects.
    • To provide an overview of conditions including heart defects, neural tube defects, orofacial clefting, dislocated hip, clubfoot, and hypospadias.

    Main Methods:

    • Literature review and synthesis of existing data on congenital anomalies.
    • Discussion of diagnostic approaches for various birth defects.
    • Examination of management strategies, with a focus on genetic counseling and interventions.

    Main Results:

    • Congenital anomalies remain a significant contributor to pediatric health issues.
    • Early diagnosis and appropriate management, including genetic assessment, are crucial for affected infants.
    • Specific conditions like heart defects, neural tube defects, and orofacial clefts require tailored approaches.

    Conclusions:

    • Congenital anomalies necessitate comprehensive diagnostic and management strategies.
    • Understanding the genetic basis of these conditions is vital for effective counseling and treatment.
    • Continued research and awareness are important for addressing the impact of birth defects on child health.