Diseases of Infancy and Childhood Overview
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Questions and Answers

What are congenital anomalies primarily characterized by?

  • Infections caused during labor
  • Anatomic defects present at birth (correct)
  • Nutritional deficiencies in the mother
  • Defects that develop after birth
  • Which of the following best describes a 'malformation'?

  • An abnormal developmental process intrinsic to the fetus (correct)
  • A defect in a previously normal organ
  • A cascade of anomalies triggered by an external force
  • An environmental factor causing fetal deformation
  • What factor characterizes disruptions among congenital anomalies?

  • Heritable risks from family history
  • Extrinsic disturbances during development (correct)
  • Organ defects from maternal nutritional intake
  • Genetic inheritance patterns
  • Which example illustrates a 'disruption' in congenital anomalies?

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

    Which condition is most likely to be a primary error of morphogenesis?

    <p>Single gene disorders (A)</p> Signup and view all the answers

    How can cleft lip and palate be classified?

    <p>As disruptions resulting from environmental exposure (B)</p> Signup and view all the answers

    Which of the following is NOT a characteristic of congenital anomalies?

    <p>They are always genetic in nature (D)</p> Signup and view all the answers

    What is an example of a secondary destruction in the context of congenital anomalies?

    <p>Compression of fetus due to uterine constraint (A)</p> Signup and view all the answers

    What is oligohydramnios primarily associated with?

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

    What best defines agenesis in terms of organ development?

    <p>Complete absence of an organ and its primordium (D)</p> Signup and view all the answers

    Which of the following describes hypoplasia?

    <p>Reduced size due to failure of growth of the existing primordium (B)</p> Signup and view all the answers

    What is a potential complication of intrauterine infections?

    <p>Deregulated prostaglandin synthesis (D)</p> Signup and view all the answers

    What condition describes the absence of a normal opening?

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

    Which of the following is NOT a major risk factor for prematurity?

    <p>High socioeconomic status (C)</p> Signup and view all the answers

    What is the effect of drugs like valproic acid as teratogens?

    <p>Disruption of HOX expression (C)</p> Signup and view all the answers

    Which type of fetal presentation is least likely to lead to oligohydramnios?

    <p>Normal fetal presentation (C)</p> Signup and view all the answers

    What is a characteristic consequence of uteroplacental insufficiency?

    <p>Asymmetric growth restriction (C)</p> Signup and view all the answers

    What does hypertrophy refer to in developmental terms?

    <p>Increased size of an organ due to increased cell size (D)</p> Signup and view all the answers

    Which of the following describes the fetal period of development?

    <p>Period from 9 weeks until birth (C)</p> Signup and view all the answers

    What potential complication is a result of excessive sedation of the mother during delivery?

    <p>Hypoxia in the neonate (A)</p> Signup and view all the answers

    Which teratogen is linked to craniofacial defects?

    <p>All-trans-retinoic acid (C)</p> Signup and view all the answers

    What condition is most commonly associated with early onset infections in neonates?

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

    What is a likely complication associated with high bilirubin levels in neonates?

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

    Which of the following best describes Bronchopulmonary Dysplasia?

    <p>Poorly developed alveoli and dysmorphic capillary configuration (B)</p> Signup and view all the answers

    What is the typical radiographic finding associated with pneumatosis intestinalis?

    <p>Submucosal gas bubbles (C)</p> Signup and view all the answers

    What is the primary treatment option for neonates with severe hyperbilirubinemia?

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

    Which type of hemangioma commonly appears in infancy?

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

    What is the main cause of Fetal Hydrops?

    <p>Hemolytic disease of the newborn (B)</p> Signup and view all the answers

    What condition is characterized by a deficiency of phenylalanine hydroxylase?

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

    What is the significance of Rh immunization in pregnancy?

    <p>Can cause fetal anemia if untreated (D)</p> Signup and view all the answers

    Which of the following describes the pathogenesis of Necrotizing Enterocolitis?

    <p>Bacterial entry through the mucosal barrier (B)</p> Signup and view all the answers

    What is a common cause of late onset neonatal infections?

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

    What is a typical clinical manifestation of Erythroblastosis Fetalis?

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

    What is the primary genetic basis of Galactosemia?

    <p>GALT gene mutation (C)</p> Signup and view all the answers

    What distinguishes primary errors of morphogenesis from secondary destruction?

    <p>Secondary destruction affects previously normal organs. (C)</p> Signup and view all the answers

    Which of the following is classified as a malformation?

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

    What is a potential characteristic outcome of disruptions in congenital anomalies?

    <p>The anomaly may represent a cascade of secondary effects. (A)</p> Signup and view all the answers

    Which type of condition might result from extrinsic disturbances during fetal development?

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

    Which congenital anomaly is most likely not directly related to genetic factors?

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

    What defines the nature of anomalies that are 'less severe'?

    <p>They may not become clinically apparent until later in life. (D)</p> Signup and view all the answers

    Which condition exemplifies a disturbance in morphogenesis caused by mechanical force?

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

    How can congenital anomalies often be classified based on their developmental stages?

    <p>As malformations, disruptions, or deformations. (A)</p> Signup and view all the answers

    What is a common characteristic of oligohydramnios?

    <p>Fetal growth restriction due to decreased amniotic fluid (B)</p> Signup and view all the answers

    Which of the following is an example of a malformation syndrome?

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

    What condition describes the complete absence of an organ?

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

    What is a key consequence of uteroplacental insufficiency?

    <p>Decreased fetal oxygen supply (C)</p> Signup and view all the answers

    Which period is critical for organ development and has peak sensitivity?

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

    What describes the process of hypoplasia?

    <p>Reduced organ size due to decreased cell number (A)</p> Signup and view all the answers

    What is a defining feature of multifactorial congenital anomalies?

    <p>Interaction of genetic factors and environmental influences (D)</p> Signup and view all the answers

    Which teratogen is known for disrupting HOX gene expression?

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

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

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

    Which condition may arise from maternal disease states during pregnancy?

    <p>Intrauterine growth restriction (A)</p> Signup and view all the answers

    What primarily characterizes dysplasia?

    <p>Abnormal organization of cells (D)</p> Signup and view all the answers

    What is a consequence of excessive sedation during delivery?

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

    What type of anomalies arises due to triploidy and various chromosomal deletions?

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

    What major complication can arise from ventilator-administered oxygen in neonates?

    <p>Retrolental Fibroplasia/ROP (A)</p> Signup and view all the answers

    Which condition involves the accumulation of edema fluid in the fetus?

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

    What is the most common cause of early onset neonatal infection?

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

    In the context of perinatal infections, what are the synonymous categories of transmission?

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

    Which of the following is a manifestation of fetal anemia?

    <p>Hydrops fetalis (A), Jaundice (D)</p> Signup and view all the answers

    What histological feature is commonly associated with Necrotizing Enterocolitis?

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

    What is the standard treatment for severe hyperbilirubinemia in neonates?

    <p>Phototherapy (A), Total exchange transfusion (D)</p> Signup and view all the answers

    What condition is characterized by the presence of a bloody stool in infants?

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

    What is the characterizing feature of Erythroblastosis Fetalis in the fetus?

    <p>High reticulocyte count (A), Reduced red blood cell lifespan (D)</p> Signup and view all the answers

    Which factor is most common for congenital malformations?

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

    What complication is linked to the condition called Bronchopulmonary Dysplasia?

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

    What is the significant characteristic feature of congenital capillary hemangiomas?

    <p>Highly vascularized lesions (A)</p> Signup and view all the answers

    What is a common finding on radiographic examination of pneumatosis intestinalis?

    <p>Intramural air bubbles (D)</p> Signup and view all the answers

    Which of the following best describes the pathophysiology behind Kernicterus?

    <p>Unconjugated bilirubin neurotoxicity (C)</p> Signup and view all the answers

    Flashcards

    Congenital Anomalies

    Birth defects present at birth, some only apparent later in life.

    Congenital Anomaly Types

    Congenital anomalies can be from intrinsic (developmental problem) or extrinsic (external factors) process issues.

    Malformations

    Primary errors of morphogenesis, an intrinsic developmental process problem.

    Disruptions

    Secondary destruction of a normal organ or body region during development due to external factors.

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    Polydactyly

    A congenital anomaly (malformation) characterized by extra digits.

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    Cleft lip and palate

    A congenital anomaly often resulting from a cascade of developmental issues.

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    Amniotic Bands

    Extrinsic factors (like compression) that can cause localized or generalized anomalies.

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    Fetal Growth Restriction

    Premature or insufficient growth of a fetus during pregnancy.

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    Oligohydramnios

    A condition where there's too little amniotic fluid surrounding the fetus.

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    Potter Sequence

    A constellation of abnormalities in a fetus caused by oligohydramnios during pregnancy. Features include facial deformities, pulmonary hypoplasia, and limb deformities.

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    Agenesis

    Complete absence of an organ or body part from birth.

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    Aplasia

    Absence of an organ due to the failure of its primordial tissue to grow.

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    Hypoplasia

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

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    Hyperplasia

    An organ has increased size due to an increase in the number of cells.

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    Hypotrophy

    Decreased size of an organ due to smaller cells.

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    Hypertrophy

    Increased size of an organ due to larger cells.

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    Atresia

    Absence of an opening in a body part that should normally be open.

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    Dysplasia

    Abnormal organization of cells in an organ or tissue.

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    Embryonic Period

    The first 9 weeks of pregnancy, a crucial period for organ formation.

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    Fetal Period

    The period from week 9 of pregnancy until birth, when organ growth and maturation continues.

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    Preterm Premature Rupture of Membranes (PPROM)

    Rupture of the amniotic sac before the 37th week of pregnancy.

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    Intrauterine Infections

    Infections that occur within the womb, affecting the fetus during pregnancy.

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    Fetal Growth Restriction (FGR)

    Slow growth of a fetus during pregnancy, leading to a smaller than expected baby.

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    What is Respiratory Distress Syndrome (RDS)?

    A respiratory problem in premature infants caused by underdeveloped lungs, leading to difficulty breathing and often requiring ventilation.

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    What are the typical characteristics of RDS?

    Fine rales (crackling sounds) upon auscultation, a 'ground-glass' appearance on X-rays, and signs of respiratory distress like cyanosis soon after birth.

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    What are some risk factors for RDS?

    Prematurity, male gender, maternal diabetes, and cesarean deliveries are all associated with an increased risk for RDS.

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    What is the significance of the first 3-4 days for RDS?

    Early recovery is vital for babies with RDS. Survival within the first 3-4 days significantly improves their chances of a healthy outcome.

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    What is Bronchopulmonary Dysplasia (BPD)?

    A chronic lung disease that develops in preemies with RDS, making it difficult to breathe independently later in life.

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    What are some common complications of RDS?

    Patent ductus arteriosus (PDA), intraventricular hemorrhage (IVH), and necrotizing enterocolitis (NEC) can occur in babies with RDS.

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    Define Necrotizing Enterocolitis (NEC)?

    A serious intestinal condition in newborns where the bowel wall dies due to bacteria and inflammation.

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    What are some common sites of NEC involvement?

    NEC most often affects the terminal ileum, cecum, and right colon, but can spread to any part of the small or large intestine.

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    What are the characteristic features of NEC on gross examination?

    The affected bowel appears distended, friable, and gangrenous, with or without perforation and peritonitis.

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    What are some potential contributing factors to NEC?

    Platelet activating factor (PAF), inflammation, mucosal barrier breakdown, and bacterial entry are all factors believed to play a role in NEC.

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    What are some symptoms of NEC?

    Bloody stools, abdominal distention, and circulatory collapse are common signs of NEC.

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    How is NEC diagnosed?

    An abdominal X-ray showing pneumatosis intestinalis (air bubbles in the intestinal wall) is a key diagnostic tool for NEC.

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    What is the difference between Early-Onset and Late-Onset neonatal sepsis?

    Early-Onset sepsis occurs within the first 7 days of life, most often at or before birth, while Late-Onset sepsis develops between 7 days and 3 months of age.

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    What is the most common causative organism for Early-Onset neonatal sepsis?

    Group B Streptococcus is the leading cause of Early-Onset neonatal sepsis.

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    What are some examples of causative organisms for Late-Onset neonatal sepsis?

    Listeria monocytogenes and Candida albicans are common causes of Late-Onset neonatal sepsis.

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    What are Malformations?

    Primary errors in the way organs are formed during development. Think of it as a blueprint error.

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    What are Disruptions?

    Damage to already normally formed organs during development due to external factors. Like a perfectly built house that gets damaged by a storm.

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    What is Agenesis?

    Complete absence of an organ or body part, like it never formed at all.

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    What is Aplasia?

    Absence of an organ due to the failure of its initial structure to grow.

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    What is Hypoplasia?

    An organ is smaller than normal due to incomplete development.

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    What is Hyperplasia?

    An organ is larger than normal due to an increase in the number of cells.

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    What is Hypotrophy?

    An organ is smaller than normal because the cells are smaller.

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    What is Hypertrophy?

    An organ is larger than normal because the cells are larger.

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    What is Atresia?

    Absence of an opening in a body part that should normally be open.

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    What is Dysplasia?

    Cells are arranged abnormally within an organ or tissue.

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    What is the Embryonic Period?

    The crucial first 9 weeks of pregnancy where most organs are formed.

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    What is the Fetal Period?

    The time from week 9 of pregnancy until birth, when organs continue to grow and mature.

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    What is Preterm Premature Rupture of Membranes (PPROM)?

    The amniotic sac breaks before the 37th week of pregnancy.

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    What are Intrauterine Infections?

    Infections that occur in the womb, affecting the fetus during pregnancy.

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    What is Fetal Growth Restriction (FGR)?

    The fetus doesn't grow as expected during pregnancy.

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    Respiratory Distress Syndrome (RDS)

    A breathing problem in premature babies caused by underdeveloped lungs, leading to difficulty breathing.

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    RDS 'Ground-Glass' Appearance

    A characteristic X-ray finding in RDS, showing a hazy, white-out pattern in the lungs.

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    Bronchopulmonary Dysplasia (BPD)

    A chronic lung disease that develops in premature babies with RDS, making it difficult to breathe independently later in life.

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    Necrotizing Enterocolitis (NEC)

    A serious intestinal condition in newborns where the bowel wall dies due to bacteria and inflammation.

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    NEC Location

    NEC often affects the terminal ileum, cecum, and right colon.

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    NEC Gross Appearance

    The affected bowel in NEC is distended, friable (easily broken), gangrenous, and may perforate.

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    NEC Radiographic Finding

    An abdominal X-ray showing 'pneumatosis intestinalis' (air bubbles in the intestinal wall) is a key diagnostic tool for NEC.

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    Early-Onset Neonatal Sepsis

    Sepsis that occurs within the first 7 days of life, often acquired at or before birth.

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    Late-Onset Neonatal Sepsis

    Sepsis that occurs between 7 days and 3 months of age.

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    Most Common Cause of Early-Onset Sepsis

    Group B Streptococcus is the most frequent cause of early-onset neonatal sepsis.

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    Fetal Hydrops

    Accumulation of edema fluid in the fetus during intrauterine growth.

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    Causes of Fetal Hydrops

    Fetal hydrops can be caused by blood group incompatibilities (ABO and Rh) leading to anemia and jaundice, or by other factors like cardiovascular defects, chromosomal anomalies and fetal anemia.

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    Rh Incompatibility

    An immune reaction when an Rh-negative mother carries an Rh-positive fetus, leading to antibody production.

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    Kernicterus

    Brain damage caused by high levels of bilirubin in the blood, a complication of severe jaundice.

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    Phenylketonuria (PKU)

    A rare AR disorder of phenylalanine metabolism, leading to buildup of phenylalanine in the body.

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    Galactosemia

    A rare AR disorder of galactose metabolism, leading to accumulation of galactose-1-PO4 in the body.

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    Tumor-Like Conditions

    Growths that resemble tumors, but may not be truly cancerous. These include hamartomas and choristomas.

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    SIDS

    Sudden Infant Death Syndrome, where a seemingly healthy infant dies unexpectedly and without an explanation.

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    Inborn Errors of Metabolism

    Genetic disorders in which the body can't break down certain substances, causing buildup and health issues.

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    Study Notes

    Diseases of Infancy and Childhood

    • Outline includes Congenital Anomalies, Prematurity and Fetal Growth Restrictions, Perinatal Infections, Fetal Hydrops, Inborn Errors of Metabolism, Genetic Disorders, SIDS, Tumors and Tumor-Like Conditions

    Congenital Anomalies

    • Congenital means "born with"
    • Some anatomic defects are present at birth but may not be clinically apparent for years
    • May or may not be genetic
    • Less severe anomalies do not always lead to stillbirths
    • Primary errors of morphogenesis lead to intrinsic abnormal developmental process
    • Secondary destruction occurs to a normal organ or body during development
    • Extrinsic disturbances can be from environmental agents
    • Malformations are not heritable

    Malformations

    • Secondary destruction of a previously normal organ or body region during development. This arises from disturbances in morphogenesis.

    Disruptions

    • Extrinsic disturbances in morphogenesis and are not heritable
    • Example: Amniotic Bands

    Deformations

    • A cascade of anomalies initiated by a single localized aberration in organ development. Effects are malformation, disruption, or deformation.
    • Example: Oligohydramnios or Potter Sequence

    Fetal Growth Restriction

    • Decreased blood supply to the fetus leads to intrinsic reduction in growth potential.
    • Genetic factors like triploidy, trisomy 18, variety of deletions and translocations, trisomy 21, trisomy 13.
    • Infections like TORCH (Toxoplasmosis, Rubella, CMV, Herpesvirus) can also contribute to the restriction.

    Intrauterine Infections

    • Various organisms like Ureaplasma urealyticum, Mycoplasma hominis, Gardnerella vaginalis, Trichomonas, Neisseria gonorrhea, Chlamydia, and Malarial organisms are potential sources of infection.

    Prematurity and Fetal Growth Restrictions

    • PPROM (Preterm PROM) occurs before the 37th week
    • Maternal factors include smoking, low socioeconomic status, and poor nutrition. Poor 2nd trimester health can also increase risk.
    • Intrauterine infections like viral infections raise the risk.

    Causes of Congenital Anomalies

    • Genetic causes: Single Gene Mutations (Mendelian Disorders), Chromosomal Syndromes.
    • Environmental factors: Maternal/Placental Infections (e.g., Viral Infections, Rubella, Syphilis, HIV), Maternal Disease States (e.g., DM, PKU, Endocrinopathies), Drugs (e.g., thalidomide, alcohol, nicotine, anticonvulsants, warfarin, retinoic acid), Irradiation.
    • Multifactorial causes: Interaction of several environmental influences with two or more genes.

    Teratogen and Genetic Defect Interplay

    • Cyclopamine (from Corn Lily) inhibits the Hedgehog signal. This can cause serious developmental defects.
    • Valproic Acid disrupts HOX expression and causes Valproic Acid Embryopathy. It impacts limb development and facial structures.
    • All-trans-retinoic acid (Vitamin A) is essential for development and differentiation but excessive amounts cause All-trans-retinoic Acid Embryopathy. Effects occur in the CNS, heart, and facial structures.

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

    • Causes: Excessive sedation, fetal head injury, aspiration of fluid (amniotic, blood), intrauterine hypoxia, or umbilical cord issues.
    • Fundamental defect in SP-B and SP-C for surfactant synthesis.
    • This can result in increased alveolar surface tension, uneven perfusion, atelectasis, hypoventilation, hypoxemia (low oxygen in blood), CO2 retention, and acidosis.

    Necrotizing Enterocolitis

    • Disease incidence is inversely proportional to gestational age
    • Multifactorial pathogenesis possible, including possible platelet activating factors (PAFs) and inflammation leading to necrosis of the mucosal barrier.
    • Results in inflammatory conditions that can cause bloody stools and lead to abdominal distention and circulatory collapse.
    • Abdominal X-ray shows pneumatosis intestinalis

    Perinatal Infections

    • Perinatal infections are infections that occur before, during, or shortly after birth. Infections can occur via transplacental, transcerical/ascending, or hematogenous routes.
    • Ascending infections can arise from infected amniotic fluid, or bacteria passing through the infected birth canal.
    • Hematogenous infections are often parasitic or viral, and include infections such as toxoplasmosis, malaria, and viral infections from human immunodeficiency virus.
    • Specific bacterial infections such as Parvovirus B19 (Fifth Disease/ Erythema infectiosum) need to be considered.

    Neonatal Respiratory Distress Syndrome (RDS)

    • Causes include excessive sedation, fetal head injury, aspiration of amniotic fluid or blood, intrauterine hypoxia, or umbilical cord problems.
    • RDS is characterized by reduced surfactant production, leading to increased alveolar surface tension, and subsequent hypoventilation, hypoxemia, and acidosis.

    Fetal Hydrops

    • Fluid accumulation in the fetus during intrauterine growth
    • Can be immune-mediated (due to blood group incompatibility) or non-immune mediated. Immune-mediated occurs due to blood group incompatibilities between mother and fetus.
    • Non-immune factors will lead to a variety of factors.

    Inborn Errors of Metabolism and Other Genetic Disorders

    • Phenylketonuria (PKU): Deficiency of phenylalanine hydroxylase, leading to a buildup of phenylalanine, causing developmental issues.
    • Galactosemia: Inability to process galactose.

    Sudden Infant Death Syndrome (SIDS)

    • Sudden death under 1 year unexplained by clear process
    • Risk factors include prone or side sleeping position, environmental factors such as sleeping on soft surface, and premature birth.

    Tumors and Tumor-Like Conditions

    • 2% of all infant/childhood cancers are malignant
    • Most common are soft-tissue tumors.
    • Examples include hemangiomas, fibrous tumors and teratomas (e.g. sacrococcygeal teratoma.)
    • Important malignant examples are: Wilms Tumor, Neuroblastoma.

    Wilms Tumor

    • A primary renal tumor most common in children 2 to 5 years old.
    • Can be unilateral or bilateral.
    • WAGR syndrome and Denys-Drash syndrome are associated conditions.

    Neuroblastoma

    • Frequently diagnosed malignant solid tumor of infancy and childhood.
    • Primarily localized to extracranial areas, it is most often found in the sympathetic ganglia and adrenal medulla.
    • 40% of cases detected in infancy.

    Beckwith-Wiedemann Syndrome (BWS)

    • Associated signs: Organomegaly, macroglossia, hemihypertrophy, omphalocele, and adrenal cytomegaly.
    • Often marked by transcriptional silencing, involving gene expression on chromosome 11p15.5.

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    Description

    This quiz covers key topics related to diseases and abnormalities affecting infants and children, including congenital anomalies, prematurity, perinatal infections, and genetic disorders. You'll explore the definitions, causes, and implications of various malformations and disruptions. Test your knowledge on these critical health issues that impact early development.

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