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What distinguishes malformations from disruptions in congenital anomalies?
What distinguishes malformations from disruptions in congenital anomalies?
Which of the following accurately reflects congenital anomalies associated with environmental agents?
Which of the following accurately reflects congenital anomalies associated with environmental agents?
Which term is used to describe anomalies that result from a cascade of secondary effects from a single initiating aberration?
Which term is used to describe anomalies that result from a cascade of secondary effects from a single initiating aberration?
What is the potential consequence of congenital anomalies that may not be apparent at birth?
What is the potential consequence of congenital anomalies that may not be apparent at birth?
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Which condition is characterized by congenital defects that may or may not have a genetic basis?
Which condition is characterized by congenital defects that may or may not have a genetic basis?
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Which of the following factors is NOT typically associated with the development of significant congenital anomalies?
Which of the following factors is NOT typically associated with the development of significant congenital anomalies?
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In the context of congenital anomalies, which statement is TRUE regarding artifacts from mechanical forces?
In the context of congenital anomalies, which statement is TRUE regarding artifacts from mechanical forces?
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Which congenital anomaly condition is NOT typically considered heritable?
Which congenital anomaly condition is NOT typically considered heritable?
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What is the term for the complete absence of an organ and its primordium?
What is the term for the complete absence of an organ and its primordium?
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What is a major risk factor contributing to preterm premature rupture of membranes (PPROM)?
What is a major risk factor contributing to preterm premature rupture of membranes (PPROM)?
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Which of the following is NOT a characteristic of malformation syndromes?
Which of the following is NOT a characteristic of malformation syndromes?
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What condition is characterized by abnormal organization of cells?
What condition is characterized by abnormal organization of cells?
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Which of the following environmental factors is classified under multifactorial influences?
Which of the following environmental factors is classified under multifactorial influences?
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During which period is the peak sensitivity for organ development most pronounced?
During which period is the peak sensitivity for organ development most pronounced?
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What term describes the failure of growth of an existing organ's primordium?
What term describes the failure of growth of an existing organ's primordium?
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Which infection is a part of the TORCH complex associated with congenital abnormalities?
Which infection is a part of the TORCH complex associated with congenital abnormalities?
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What is the impact of uteroplacental insufficiency on fetal development?
What is the impact of uteroplacental insufficiency on fetal development?
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Which teratogen is known to disrupt HOX expression, leading to various malformations?
Which teratogen is known to disrupt HOX expression, leading to various malformations?
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What is the condition where there is a failure to maintain an opening in an organ?
What is the condition where there is a failure to maintain an opening in an organ?
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What structural anomaly is caused by excessive coiling of the umbilical cord?
What structural anomaly is caused by excessive coiling of the umbilical cord?
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Which condition is characterized by a combination of decreased size due to reduced cell number?
Which condition is characterized by a combination of decreased size due to reduced cell number?
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What is the primary consequence of insufficient surfactant in preterm infants?
What is the primary consequence of insufficient surfactant in preterm infants?
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Which of the following infections is most commonly associated with early onset sepsis in newborns?
Which of the following infections is most commonly associated with early onset sepsis in newborns?
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Which factor is associated with an increased incidence of necrotizing enterocolitis (NEC)?
Which factor is associated with an increased incidence of necrotizing enterocolitis (NEC)?
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What is the primary pathophysiological mechanism of hemolytic disease of the newborn due to Rh incompatibility?
What is the primary pathophysiological mechanism of hemolytic disease of the newborn due to Rh incompatibility?
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Which of the following complications is NOT typically associated with prematurity?
Which of the following complications is NOT typically associated with prematurity?
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What is the underlying issue in congenital adrenal hyperplasia resulting from a deficiency of 21-hydroxylase?
What is the underlying issue in congenital adrenal hyperplasia resulting from a deficiency of 21-hydroxylase?
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What is the role of phototherapy in the treatment of jaundice in newborns?
What is the role of phototherapy in the treatment of jaundice in newborns?
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Which condition is characterized by the presence of bloody stools and pneumatosis intestinalis in a newborn?
Which condition is characterized by the presence of bloody stools and pneumatosis intestinalis in a newborn?
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What is the most common genetic cause of fetal hydrops in Rh-negative mothers?
What is the most common genetic cause of fetal hydrops in Rh-negative mothers?
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Which abnormality is most likely to be observed in a newborn with classic phenylketonuria?
Which abnormality is most likely to be observed in a newborn with classic phenylketonuria?
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What is the expected presentation of a newborn with a congenital hemangioma?
What is the expected presentation of a newborn with a congenital hemangioma?
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What prenatal condition significantly increases the risk of intrauterine growth restriction (IUGR)?
What prenatal condition significantly increases the risk of intrauterine growth restriction (IUGR)?
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What genetic condition is indicated by the presence of a pincer-like grasp and hypotonia in an infant?
What genetic condition is indicated by the presence of a pincer-like grasp and hypotonia in an infant?
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What is a primary feature of erythroblastosis fetalis?
What is a primary feature of erythroblastosis fetalis?
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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.
