Podcast
Questions and Answers
What is a key factor that differentiates malformations from disruptions in congenital anomalies?
What is a key factor that differentiates malformations from disruptions in congenital anomalies?
- Malformations never impact functional outcomes of the organs.
- Malformations are always genetic in nature.
- Disruptions occur due to extrinsic disturbances after initial normal development. (correct)
- Disruptions are always hereditary in origin.
Which of the following is an example of a congenital anomaly that may not be genetically inherited?
Which of the following is an example of a congenital anomaly that may not be genetically inherited?
- Down syndrome
- Cleft lip and palate (correct)
- Hemophilia
- Turner syndrome
Which of the following correctly identifies a characteristic of fetal hydrops?
Which of the following correctly identifies a characteristic of fetal hydrops?
- It is related solely to tumor-like conditions.
- It can occur due to congenital infections. (correct)
- It is exclusively linked to genetic disorders.
- It is always caused by inborn errors of metabolism.
What best describes the nature of primary errors of morphogenesis?
What best describes the nature of primary errors of morphogenesis?
Which statement about anatomic defects classified under congenital anomalies is accurate?
Which statement about anatomic defects classified under congenital anomalies is accurate?
What is a common misconception regarding congenital anomalies?
What is a common misconception regarding congenital anomalies?
In what way can maternal factors contribute to the development of congenital anomalies?
In what way can maternal factors contribute to the development of congenital anomalies?
What distinguishes polydactyly as a congenital anomaly?
What distinguishes polydactyly as a congenital anomaly?
What is the term used for a complete absence of an organ and its primordium?
What is the term used for a complete absence of an organ and its primordium?
Which condition is primarily associated with uteroplacental insufficiency?
Which condition is primarily associated with uteroplacental insufficiency?
Which of the following syndromes is NOT classified as a chromosomal syndrome?
Which of the following syndromes is NOT classified as a chromosomal syndrome?
What condition is associated with the teratogen Valproic Acid?
What condition is associated with the teratogen Valproic Acid?
What does the term 'Hypoplasia' refer to?
What does the term 'Hypoplasia' refer to?
Which of these is a known major risk factor for prematurity?
Which of these is a known major risk factor for prematurity?
Which environmental factor has been shown to interact with genetic factors in causing certain fetal abnormalities?
Which environmental factor has been shown to interact with genetic factors in causing certain fetal abnormalities?
What is primarily affected by hydropic changes in fetuses?
What is primarily affected by hydropic changes in fetuses?
What developmental period is the highest peak of sensitivity for organ formation?
What developmental period is the highest peak of sensitivity for organ formation?
Which condition is NOT a result of maternal placental insufficiency?
Which condition is NOT a result of maternal placental insufficiency?
What is the most likely result of uteroplacental insufficiency on fetal development?
What is the most likely result of uteroplacental insufficiency on fetal development?
Which teratogen is associated with craniofacial and CNS defects due to excess dosage?
Which teratogen is associated with craniofacial and CNS defects due to excess dosage?
Which anomaly is related to the maternal disease state of diabetes mellitus (DM)?
Which anomaly is related to the maternal disease state of diabetes mellitus (DM)?
What is a common outcome for neonates who survive the first 3-4 days after birth despite respiratory distress?
What is a common outcome for neonates who survive the first 3-4 days after birth despite respiratory distress?
Which pathogen is most commonly associated with early onset perinatal infections?
Which pathogen is most commonly associated with early onset perinatal infections?
What condition results from a blood group incompatibility between mother and fetus?
What condition results from a blood group incompatibility between mother and fetus?
Which of the following is a sign of necrotizing enterocolitis (NEC)?
Which of the following is a sign of necrotizing enterocolitis (NEC)?
What is the most common reason for inducing fetal anemia?
What is the most common reason for inducing fetal anemia?
How is congenital hemolytic disease caused by blood group incompatibility primarily treated?
How is congenital hemolytic disease caused by blood group incompatibility primarily treated?
What condition might present as 'ground-glass opacities' in neonatal X-rays?
What condition might present as 'ground-glass opacities' in neonatal X-rays?
What happens during phase II of retinopathy of prematurity (ROP)?
What happens during phase II of retinopathy of prematurity (ROP)?
Which type of genetic disorder is associated with phenylketonuria (PKU)?
Which type of genetic disorder is associated with phenylketonuria (PKU)?
Which complication is least likely associated with bronchopulmonary dysplasia?
Which complication is least likely associated with bronchopulmonary dysplasia?
What is the consequence of high levels of unconjugated bilirubin in a newborn?
What is the consequence of high levels of unconjugated bilirubin in a newborn?
Which abnormal finding is associated with congenital fibrous tumors?
Which abnormal finding is associated with congenital fibrous tumors?
In what way does the pathogenesis of neonatal infection differ from other infections?
In what way does the pathogenesis of neonatal infection differ from other infections?
What is the primary cause of disruptions in organ development?
What is the primary cause of disruptions in organ development?
Which of the following conditions might not be purely genetic in nature?
Which of the following conditions might not be purely genetic in nature?
What is a defining feature of malformations as congenital anomalies?
What is a defining feature of malformations as congenital anomalies?
Which of the following best describes a cascade of anomalies?
Which of the following best describes a cascade of anomalies?
Which situation typically leads to the highest risk of fetal malformations due to environmental agents?
Which situation typically leads to the highest risk of fetal malformations due to environmental agents?
How is polydactyly classified among congenital anomalies?
How is polydactyly classified among congenital anomalies?
What might cause secondary destruction of a previously normal organ during development?
What might cause secondary destruction of a previously normal organ during development?
Which factor is least likely to contribute to congenital anomalies?
Which factor is least likely to contribute to congenital anomalies?
What is the primary characteristic of malformation syndromes?
What is the primary characteristic of malformation syndromes?
Which of the following best describes 'agenesis' in congenital anomalies?
Which of the following best describes 'agenesis' in congenital anomalies?
Which factor is a known risk for preterm premature rupture of membranes (PPROM)?
Which factor is a known risk for preterm premature rupture of membranes (PPROM)?
What developmental outcome is most directly associated with uteroplacental insufficiency?
What developmental outcome is most directly associated with uteroplacental insufficiency?
What is the primary consequence of maternal exposure to thalidomide during pregnancy?
What is the primary consequence of maternal exposure to thalidomide during pregnancy?
Which of the following describes the role of cyclopamine as a teratogen?
Which of the following describes the role of cyclopamine as a teratogen?
What is the primary effect of maternal smoking on fetal development?
What is the primary effect of maternal smoking on fetal development?
Which factor is NOT typically associated with maternal disease states contributing to congenital anomalies?
Which factor is NOT typically associated with maternal disease states contributing to congenital anomalies?
What is the significance of the embryonic period in relation to teratogenic effects?
What is the significance of the embryonic period in relation to teratogenic effects?
Which condition is most likely caused by chromosomal abnormalities in the fetus?
Which condition is most likely caused by chromosomal abnormalities in the fetus?
What does 'dysplasia' refer to in the context of congenital abnormalities?
What does 'dysplasia' refer to in the context of congenital abnormalities?
Which pathogen is associated with serious maternal infections linked to congenital anomalies?
Which pathogen is associated with serious maternal infections linked to congenital anomalies?
What is the expected outcome of hypoxia in the fetus during pregnancy?
What is the expected outcome of hypoxia in the fetus during pregnancy?
Which of the following describes the impact of maternal drug use during pregnancy on fetal development?
Which of the following describes the impact of maternal drug use during pregnancy on fetal development?
What defines the term 'hypotrophy' in relation to organ development?
What defines the term 'hypotrophy' in relation to organ development?
What is a common complication associated with bronchopulmonary dysplasia?
What is a common complication associated with bronchopulmonary dysplasia?
Which of the following conditions is primarily linked to maternal diabetes mellitus?
Which of the following conditions is primarily linked to maternal diabetes mellitus?
Which maternal infection is known as a likely cause for early onset neonatal sepsis?
Which maternal infection is known as a likely cause for early onset neonatal sepsis?
What is the primary treatment for severe hyperbilirubinemia in neonates?
What is the primary treatment for severe hyperbilirubinemia in neonates?
Which factor contributes to the pathogenesis of necrotizing enterocolitis (NEC)?
Which factor contributes to the pathogenesis of necrotizing enterocolitis (NEC)?
What role does retinopathy of prematurity (ROP) typically play in the management of premature infants?
What role does retinopathy of prematurity (ROP) typically play in the management of premature infants?
Which histological feature is commonly associated with necrotizing enterocolitis (NEC)?
Which histological feature is commonly associated with necrotizing enterocolitis (NEC)?
What is a probable consequence of the Rh incompatibility between a mother and her fetus?
What is a probable consequence of the Rh incompatibility between a mother and her fetus?
What pattern of lung development is typically observed in neonates with respiratory distress syndrome?
What pattern of lung development is typically observed in neonates with respiratory distress syndrome?
Which condition involves inflammation and necrosis of the intestinal barrier, allowing for bacterial entry?
Which condition involves inflammation and necrosis of the intestinal barrier, allowing for bacterial entry?
Which of the following describes the typical fetal presentation of hydrops fetalis?
Which of the following describes the typical fetal presentation of hydrops fetalis?
What characteristic is most commonly seen in congenital fibrous tumors?
What characteristic is most commonly seen in congenital fibrous tumors?
What complication can arise due to excessive oxygen treatment in preterm infants?
What complication can arise due to excessive oxygen treatment in preterm infants?
What typically occurs in the lungs of preterm infants who survive the first 3-4 days after birth despite respiratory distress?
What typically occurs in the lungs of preterm infants who survive the first 3-4 days after birth despite respiratory distress?
Flashcards
Congenital Anomalies
Congenital Anomalies
Birth defects present at birth; some may not be apparent until later in life.
Congenital Malformations
Congenital Malformations
Anatomic defects resulting from intrinsic, abnormal developmental processes.
Congenital Disruptions
Congenital Disruptions
Anatomic defects caused by extrinsic disturbance in developmental processes, not heritable.
Amniotic Bands
Amniotic Bands
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Prematurity
Prematurity
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Fetal Growth Restriction
Fetal Growth Restriction
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Perinatal Infections
Perinatal Infections
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Inborn Errors of Metabolism
Inborn Errors of Metabolism
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Oligohydramnios
Oligohydramnios
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Potter Sequence
Potter Sequence
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Uteroplacental Insufficiency
Uteroplacental Insufficiency
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Bicornuate Uterus
Bicornuate Uterus
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Genetic Malformations
Genetic Malformations
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Single Gene Mutations
Single Gene Mutations
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Chromosomal Syndromes
Chromosomal Syndromes
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Environmental Teratogens
Environmental Teratogens
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Maternal Infections
Maternal Infections
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Multifactorial Birth Defects
Multifactorial Birth Defects
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Preterm Premature Rupture of Membranes (PPROM)
Preterm Premature Rupture of Membranes (PPROM)
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Intrauterine Infections
Intrauterine Infections
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Hyaline Membrane Disease (HMD)
Hyaline Membrane Disease (HMD)
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What is ROP?
What is ROP?
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What is BPD?
What is BPD?
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What is NEC?
What is NEC?
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What is Pneumatosis Intestinalis?
What is Pneumatosis Intestinalis?
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What is a PAF?
What is a PAF?
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What is TORCH?
What is TORCH?
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What is Fetal Hydrops?
What is Fetal Hydrops?
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What is Kernicterus?
What is Kernicterus?
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What is Erythroblastosis Fetalis?
What is Erythroblastosis Fetalis?
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What is PKU?
What is PKU?
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What is Galactosemia?
What is Galactosemia?
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What is a Hamartoma?
What is a Hamartoma?
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What is a Choristoma?
What is a Choristoma?
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What is a Congenital Hemangioma?
What is a Congenital Hemangioma?
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What is a Congenital Fibrosarcoma?
What is a Congenital Fibrosarcoma?
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What is the effect of Oligohydramnios on the fetus?
What is the effect of Oligohydramnios on the fetus?
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What is the difference between Agenesis and Aplasia?
What is the difference between Agenesis and Aplasia?
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What is a Malformation Syndrome?
What is a Malformation Syndrome?
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What is the difference between Hypoplasia and Hyperplasia?
What is the difference between Hypoplasia and Hyperplasia?
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What are the main categories of congenital anomalies based on their causes?
What are the main categories of congenital anomalies based on their causes?
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What is the role of Hedgehog signaling in development?
What is the role of Hedgehog signaling in development?
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What is Retinoic Acid Embryopathy?
What is Retinoic Acid Embryopathy?
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What are the major risk factors for Preterm Premature Rupture of Membranes (PPROM)?
What are the major risk factors for Preterm Premature Rupture of Membranes (PPROM)?
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What are the most common organisms causing intrauterine infections?
What are the most common organisms causing intrauterine infections?
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What is the difference between symmetric and asymmetric fetal growth restriction (FGR)?
What is the difference between symmetric and asymmetric fetal growth restriction (FGR)?
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What are potential causes of fetal growth restriction?
What are potential causes of fetal growth restriction?
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What is Hyaline Membrane Disease (HMD)?
What is Hyaline Membrane Disease (HMD)?
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What are Malformations?
What are Malformations?
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What are Disruptions?
What are Disruptions?
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What are Amniotic Bands?
What are Amniotic Bands?
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What are Polydactyly and Cleft Lip/Palate?
What are Polydactyly and Cleft Lip/Palate?
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What are Inborn Errors of Metabolism?
What are Inborn Errors of Metabolism?
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What are Fetal Tumors?
What are Fetal Tumors?
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Study Notes
Diseases of Infancy and Childhood
- Diseases covered include congenital anomalies, prematurity, fetal growth restrictions, perinatal infections, inborn errors, SIDS, and tumors.
Congenital Anomalies
- Congenital means "born with".
- Some anatomic defects present at birth may not be clinically apparent for years.
- Congenital anomalies may or may not be genetic.
- Less severe anomalies don't always lead to stillbirths.
- Malformations are primary errors of morphogenesis, intrinsic abnormal developmental processes, single gene defects, chromosomal defects, or multifactorial defects.
- Ex: heart defects, anencephaly, and multiple organ defects.
- Disruptions are secondary destruction of a previously normal organ during development due to extrinsic disturbances in morphogenesis caused by environmental agents.
- Ex: amniotic bands
- Deformations are cascades of anomalies triggered by a single aberration during organ development.
- Ex: oligohydramnios (low amniotic fluid) leading to potter sequence.
- Congenital anomalies affect 2% of newborns.
Prematurity and Fetal Growth Restrictions
- PPROM (Preterm Premature Rupture of Membranes) occurs before 37 weeks. Risk factors include maternal smoking, low socioeconomic status, and poor nutrition.
- Intrauterine infections by organisms (Ureaplasma, Mycoplasma, Gardnerella, Trichomonas, Neisseria, Chlamydia, Malaria, and HIV) activate TLRs, leading to deregulated prostaglandin synthesis and uterine contractions.
Fetal Growth Restriction
- Intrinsic factors like chromosomal abnormalities, infections (TORCH, including Toxoplasmosis, Rubella, Cytomegalovirus, Herpes), and uteroplacental insufficiency lead to decreased blood supply, impacting fetal growth.
- Symmetrical growth restriction affects the whole fetus, while asymmetrical restriction targets portions.
- Placental issues like abruption, previa, thrombosis, chronic villitis of unknown origin, or multiple pregnancies contribute to inadequate fetal nutrition.
Intrauterine Infections
- Infectious agents can cross the placental barrier, leading to fetal infections.
Fetal Hydrops
- Accumulation of edema fluid in the fetus during intrauterine growth.
- Cases can be caused by immune (blood group incompatibility) or non-immune factors.
Inborn Errors of Metabolism
- Phenylketonuria (PKU) – Arises from a deficiency in phenylalanine hydroxylase, leading to an accumulation of phenylalanine, resulting in intellectual disability, eczema, and a mousy odor of urine.
- Galactosemia – A deficiency in galactose-1-phosphate uridylyltransferase causes accumulation of galactose, causing failure to thrive, vomiting, jaundice, liver damage, cataracts, and mental retardation.
Cystic Fibrosis
- A genetic disorder impacting chloride channel function (encoded by the CFTR gene on chromosome 7q31.2), resulting in thick, sticky mucus in various organs leading to pancreatic and pulmonary issues, and increased sweat chloride.
- CFTR function varies across organs.
Sudden Infant Death Syndrome (SIDS)
- Sudden, unexplained death of an infant under 1 year.
- Risk factors include vulnerable infants (preterm, low birth weight, male, prior sibling SIDS), prone/side sleeping positions, sleeping with parents, and thermal stress.
Tumors and Tumor-like Conditions
- In the context of infancy and childhood, tumors are relatively rare (2%).
- The most prevalent tumors tend to be benign.
- Soft tissue cancers of mesenchymal origin are frequent.
- Tumor-like conditions, including hamartomas and choristomas, are also possible.
Benign Tumors of Childhood
- Hemangiomas are common in infants, involving blood vessels. They can be cavernous (large, dilated vessels) or capillary (small vessels).
- Fibrous tumors (including fibromatosis and some congenital fibrous sarcomas) also appear, with fibromatosis characterized by sparsely cellular spindle-shaped cells.
Malignant Tumors of Childhood
- Neuroblastoma is a prevalent childhood cancer, frequently diagnosed in infants and originating from neuroblasts. (40% originate in the adrenal medulla)
- Wilms tumor (nephroblastoma) arises from the kidney, mostly in children aged 2-5 years.
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Description
Test your knowledge on various diseases of infancy and childhood including congenital anomalies and their implications. This quiz covers key concepts such as malformations, disruptions, and deformations along with specific examples. Challenge yourself to understand the complexities of these conditions and their developmental processes.
