Diseases of Infancy and Childhood
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What distinguishes malformations from disruptions in congenital anomalies?

  • Malformations are present at birth, while disruptions are not apparent until later.
  • Malformations are always genetic, while disruptions are environmental.
  • Malformations arise from intrinsic developmental issues, while disruptions involve secondary destruction. (correct)
  • Malformations are typically more severe than disruptions.
  • Which of the following accurately reflects congenital anomalies associated with environmental agents?

  • Heart defects caused by genetic mutations.
  • Anencephaly resulting from maternal infection.
  • Polydactyly arising from chromosomal defects.
  • Amniotic band syndrome caused by extrinsic disturbances. (correct)
  • Which term is used to describe anomalies that result from a cascade of secondary effects from a single initiating aberration?

  • Disruptions (correct)
  • Malformations
  • Deformations
  • Syndromes
  • What is the potential consequence of congenital anomalies that may not be apparent at birth?

    <p>They may lead to developmental delays that appear later in life. (C)</p> Signup and view all the answers

    Which condition is characterized by congenital defects that may or may not have a genetic basis?

    <p>Congenital heart defects (B)</p> Signup and view all the answers

    Which of the following factors is NOT typically associated with the development of significant congenital anomalies?

    <p>Sufficient maternal nutrition (D)</p> Signup and view all the answers

    In the context of congenital anomalies, which statement is TRUE regarding artifacts from mechanical forces?

    <p>Mechanical disturbances can lead to disruptions through localized fetal compression. (D)</p> Signup and view all the answers

    Which congenital anomaly condition is NOT typically considered heritable?

    <p>Amniotic band syndrome (B)</p> Signup and view all the answers

    What is the term for the complete absence of an organ and its primordium?

    <p>Agenesis (C)</p> Signup and view all the answers

    What is a major risk factor contributing to preterm premature rupture of membranes (PPROM)?

    <p>Maternal smoking (D)</p> Signup and view all the answers

    Which of the following is NOT a characteristic of malformation syndromes?

    <p>Multiple unrelated anomalies (B)</p> Signup and view all the answers

    What condition is characterized by abnormal organization of cells?

    <p>Dysplasia (C)</p> Signup and view all the answers

    Which of the following environmental factors is classified under multifactorial influences?

    <p>Dietary deficiencies (A)</p> Signup and view all the answers

    During which period is the peak sensitivity for organ development most pronounced?

    <p>Embryonic period, 4th to 5th week (C)</p> Signup and view all the answers

    What term describes the failure of growth of an existing organ's primordium?

    <p>Hypoplasia (D)</p> Signup and view all the answers

    Which infection is a part of the TORCH complex associated with congenital abnormalities?

    <p>Toxoplasmosis (A)</p> Signup and view all the answers

    What is the impact of uteroplacental insufficiency on fetal development?

    <p>Decreased fetal growth potential (D)</p> Signup and view all the answers

    Which teratogen is known to disrupt HOX expression, leading to various malformations?

    <p>Valproic Acid (D)</p> Signup and view all the answers

    What is the condition where there is a failure to maintain an opening in an organ?

    <p>Atresia (B)</p> Signup and view all the answers

    What structural anomaly is caused by excessive coiling of the umbilical cord?

    <p>Intrauterine hypoxia (D)</p> Signup and view all the answers

    Which condition is characterized by a combination of decreased size due to reduced cell number?

    <p>Hypoplasia (B)</p> Signup and view all the answers

    What is the primary consequence of insufficient surfactant in preterm infants?

    <p>Respiratory Distress Syndrome (B)</p> Signup and view all the answers

    Which of the following infections is most commonly associated with early onset sepsis in newborns?

    <p>Group B Streptococcus (A)</p> Signup and view all the answers

    Which factor is associated with an increased incidence of necrotizing enterocolitis (NEC)?

    <p>Delayed enteral feeding (B)</p> Signup and view all the answers

    What is the primary pathophysiological mechanism of hemolytic disease of the newborn due to Rh incompatibility?

    <p>Maternal antibodies attacking fetal RBCs (C)</p> Signup and view all the answers

    Which of the following complications is NOT typically associated with prematurity?

    <p>Gestational Diabetes (C)</p> Signup and view all the answers

    What is the underlying issue in congenital adrenal hyperplasia resulting from a deficiency of 21-hydroxylase?

    <p>Excessive androgens production (C)</p> Signup and view all the answers

    What is the role of phototherapy in the treatment of jaundice in newborns?

    <p>To convert unbound bilirubin to a water-soluble form (A)</p> Signup and view all the answers

    Which condition is characterized by the presence of bloody stools and pneumatosis intestinalis in a newborn?

    <p>Necrotizing Enterocolitis (B)</p> Signup and view all the answers

    What is the most common genetic cause of fetal hydrops in Rh-negative mothers?

    <p>Immunization against Rh-positive blood group (D)</p> Signup and view all the answers

    Which abnormality is most likely to be observed in a newborn with classic phenylketonuria?

    <p>Intellectual disability (C)</p> Signup and view all the answers

    What is the expected presentation of a newborn with a congenital hemangioma?

    <p>Localized or diffuse soft tissue masses (C)</p> Signup and view all the answers

    What prenatal condition significantly increases the risk of intrauterine growth restriction (IUGR)?

    <p>Maternal hypertension (A)</p> Signup and view all the answers

    What genetic condition is indicated by the presence of a pincer-like grasp and hypotonia in an infant?

    <p>Spinal Muscular Atrophy (C)</p> Signup and view all the answers

    What is a primary feature of erythroblastosis fetalis?

    <p>Destruction of fetal red blood cells (A)</p> Signup and view all the answers

    Flashcards

    Congenital Anomalies

    Birth defects present at birth, some may not be apparent until later in life.

    Congenital Malformations

    Anatomic defects due to intrinsic errors during development (e.g., genetic issues).

    Congenital Disruptions

    Secondary damage to normal developmental processes (e.g., amniotic bands).

    Prematurity

    Birth before 37 weeks of gestation.

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    Fetal Growth Restriction

    Fetus does not grow at expected rate during pregnancy.

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    Amniotic Bands

    Extrinsic causes of disruptions/limb abnormalities.

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    Polydactyly

    Extra fingers/toes.

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    Cleft lip/palate

    Opening/split in the lip or palate at birth.

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    Oligohydramnios

    Low amniotic fluid volume during pregnancy.

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    Potter Sequence

    A group of birth defects caused by oligohydramnios. It affects the baby's lungs, face, and limbs.

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    Bicornuate uterus

    A uterus with two horns, instead of one. It can lead to problems with pregnancy, including oligohydramnios.

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    What are some causes of oligohydramnios?

    Oligohydramnios can be caused by problems with the fetus, placenta, or the mother. Examples include fetal abnormalities, premature rupture of membranes, and maternal health issues.

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    Agenesis

    Complete absence of an organ or body part.

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    Aplasia

    Absence of an organ due to failure of the organ to develop.

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    Hypoplasia

    Incomplete development of an organ, resulting in a small size.

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    Hyperplasia

    Increased size of an organ due to an increase in the number of cells.

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    What is a Malformation Syndrome?

    A group of birth defects that occur together due to a single underlying cause. These defects are believed to be related, but their exact cause is not always clear.

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    What is a Single Gene Mutation?

    A change in a single gene that causes a birth defect. These mutations are passed down from parents to their children.

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    What are some examples of Chromosomal Syndromes?

    Conditions caused by changes in the number or structure of chromosomes. Examples include Down syndrome, Klinefelter syndrome, and Turner syndrome.

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    What are some examples of Environmental causes of Congenital Anomalies?

    Factors in a mother's environment that can cause defects in the baby. Examples include infections, diseases, and medications.

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    What is a Multifactorial Congenital Anomaly?

    A birth defect caused by a combination of genetics and environmental factors.

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    What is Premature Rupture of Membranes (PROM)?

    When the amniotic sac breaks before 37 weeks of pregnancy.

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    What are some risk factors for Premature Birth?

    Factors that increase the likelihood of a baby being born early. These factors can be related to the mother, the baby, or the placenta.

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    Respiratory Distress Syndrome

    A respiratory disorder in premature infants caused by underdeveloped alveoli and lack of surfactant, leading to difficulty breathing and cyanosis.

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    Surfactant

    A substance in the lungs that helps reduce surface tension, allowing alveoli to expand and prevent collapse.

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    Retrolental Fibroplasia (ROP)

    A potentially blinding eye condition in premature infants due to abnormal blood vessel growth in the retina, caused by oxygen therapy.

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    Bronchopulmonary Dysplasia

    A chronic lung disease in premature infants caused by prolonged ventilation and oxygen therapy, leading to lung abnormalities and breathing difficulties.

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    Necrotizing Enterocolitis (NEC)

    A serious intestinal disorder in premature infants characterized by inflammation, tissue death, and possible perforation of the intestines.

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    Pneumatosis Intestinalis

    A condition characterized by air pockets in the intestinal wall, often seen in NEC.

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    Early Onset Sepsis

    Bacterial infection in a newborn within the first 7 days of life, usually acquired during or shortly before birth.

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    Late Onset Sepsis

    Bacterial infection in a newborn between 7 days and 3 months of age, often acquired after discharge from hospital.

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    Fetal Hydrops

    Swelling of the fetus due to fluid accumulation, often caused by blood group incompatibility or other conditions.

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    Hemolytic Disease of the Newborn

    A condition caused by blood group incompatibility between mother and fetus, where maternal antibodies attack fetal red blood cells.

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    Rh Incompatibility

    A specific type of hemolytic disease where a Rh-negative mother is carrying a Rh-positive fetus, leading to antibody production against the fetal red blood cells.

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    Kernicterus

    A condition where bilirubin levels in the blood become toxic and damage the brain, leading to neurological issues.

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    Phenylketonuria (PKU)

    A genetic disorder affecting the metabolism of phenylalanine, leading to intellectual disability if not treated with a special diet.

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    Galactosemia

    A genetic disorder affecting the metabolism of galactose, causing serious complications including liver failure, cataracts, and brain damage.

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    Hemangiomas

    Common tumors of infancy made of blood vessels, often on the face and scalp, can regress.

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    Study Notes

    Diseases of Infancy and Childhood

    • Diseases covered include congenital anomalies, prematurity, fetal growth restrictions, perinatal infections, inborn errors of metabolism, genetic disorders, sudden infant death syndrome (SIDS), and tumors/tumour-like conditions.

    Congenital Anomalies

    • Congenital anomalies are defects present at birth.
    • Some anomalies may not be clinically apparent for years.
    • Anomalies may or may not be genetic.
    • Less severe anomalies often do not lead to stillbirths.
    • Malformations are primary errors of morphogenesis (intrinsic abnormal developmental process), single-gene, chromosomal, or multifactorial defects (e.g., heart defects, anencephaly).
    • Disruptions result from secondary destruction of a normal organ or body region during development (extrinsic disturbance in morphogenesis influenced by environmental agents; e.g., amniotic bands).
    • Deformations result from a cascade of anomalies triggered by a single, localized aberration in organ development.
    • Anomalies can result from exposure to teratogens and/or genetic defects that interact.

    Prematurity and Fetal Growth Restrictions

    • Preterm PROM (preterm premature rupture of membranes) occurs before 37 weeks gestation and is associated with poor maternal nutrition and socioeconomic status.
    • Intrauterine infections (e.g., Ureaplasma urealyticum, Mycoplasma hominis, Gardnerella vaginalis, Trichomonas, Neisseria gonorrhea, Chlamydia, Malarial organisms, and HIV) can increase the risk of prematurity.
    • TLR engagement can stimulate prostaglandin synthesis and uterine smooth muscle contractions.

    Fetal Growth Restriction

    • Fetal growth restriction (FGR) is characterized by decreased blood supply.
    • FGR can be caused by maternal factors, fetal factors (i.e. genetic disorders or multiple fetuses), and placental factors.
    • FGR can be symmetric or asymmetric based on the type of fetal development affected
    • FGR can be associated with other conditions (e.g., infections, reduced placental function, or chronic villitis of unknown etiology,).

    Neonatal Respiratory Distress Syndrome (RDS)/Hyaline Membrane Disease (HMD)

    • Causes include excessive maternal sedation, fetal head injury during delivery, aspiration of blood or amniotic fluid, or intrauterine hypoxia (cord compression).
    • Fundamental defect is reduced surfactant synthesis, storage and release by immature lungs resulting in increased alveolar surface tension.
    • Treatment includes prophylactic exogenous surfactant & ventilator-administered oxygen.
    • Complications include PDA (Patent Ductus Arteriosus), Intraventricular Hemorrhage (IVH), and NEC (Necrotizing enterocolitis).

    Perinatal Infections

    • Perinatal infections can be ascending (occurring through the infected birth canal), or transplacental/hematogenous (occurring through the placenta or bloodstream).
    • Ascending infections are typically bacterial, while hematogenous infections often involve viruses and parasites, such as (Hepa B, HIV, Parvovirus B19, toxoplasmosis, and Malaria).
    • TORCH infections (Toxoplasmosis, Rubella, Cytomegalovirus, Herpes simplex virus) are particularly noteworthy.
    • Infections can lead to complications like pneumonia, sepsis, or meningitis.

    Fetal Hydrops

    • Fetal hydrops is the accumulation of edema fluid in the fetus during intrauterine growth.
    • Immune hydrops: results from maternal-fetal blood group incompatibility (Rh or ABO) and often leads to hemolytic disease.
    • Non-immune hydrops: unrelated to blood groups and can be related to various congenital cardiovascular defects or chromosomal anomalies.

    Inborn Errors of Metabolism

    • Inborn errors are genetic disorders that cause failures to synthesize or metabolize essential molecules, including Phenylketonuria (PKU) and Galactosemia.

    Sudden Infant Death Syndrome (SIDS)

    • SIDS is the sudden, unexpected death of a seemingly healthy infant under 1 year of age with no discernible cause at autopsy.
    • Risk factors are multiple, such as Vulnerable infants (preterm, SGA, male, previous SIDS in a sibling, prior respiratory infections), and environmental factors (prone or side sleeping position, sleeping on a soft surface, hyperthermia).
    • "Triple-Risk" Model is one way to consider SIDS risk factors by considering infant environmental/risk factors and maternal factors

    Tumors and Tumor-like Conditions

    • Tumors and tumor-like conditions represent a 2% of all malignant tumors seen in infants and children but mostly soft tissue tumors of mesenchymal origin.
    • Common tumors in this category include neuroblastoma in children and Wilms tumor (renal tumor that predominantly occurs during early childhood).
    • Beckwith-Wiedemann Syndrome (BWS) is associated with a range of tumors and other developmental abnormalities (organomegaly, macroglossia, hemihypertrophy, omphalocele, and adrenal cytomegaly).

    Benign Tumors of Infancy

    • Hemangiomas are the most common, and are either cavernous or capillary.
    • Fibrous tumors include fibromatosis and fibrocarcinomas.
    • Sacrococcygeal teratomas are common benign tumors, but also may be malignant

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    Description

    This quiz covers various diseases prevalent in infancy and childhood, focusing on congenital anomalies, perinatal infections, and genetic disorders. Learn about conditions like SIDS and inborn errors of metabolism, and understand the implications of congenital malformations and disruptions. Explore the complexities of pediatric health and development.

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