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Questions and Answers
What are congenital anomalies primarily characterized by?
What are congenital anomalies primarily characterized by?
Which of the following best describes a 'malformation'?
Which of the following best describes a 'malformation'?
What factor characterizes disruptions among congenital anomalies?
What factor characterizes disruptions among congenital anomalies?
Which example illustrates a 'disruption' in congenital anomalies?
Which example illustrates a 'disruption' in congenital anomalies?
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Which condition is most likely to be a primary error of morphogenesis?
Which condition is most likely to be a primary error of morphogenesis?
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How can cleft lip and palate be classified?
How can cleft lip and palate be classified?
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Which of the following is NOT a characteristic of congenital anomalies?
Which of the following is NOT a characteristic of congenital anomalies?
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What is an example of a secondary destruction in the context of congenital anomalies?
What is an example of a secondary destruction in the context of congenital anomalies?
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What is oligohydramnios primarily associated with?
What is oligohydramnios primarily associated with?
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What best defines agenesis in terms of organ development?
What best defines agenesis in terms of organ development?
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Which of the following describes hypoplasia?
Which of the following describes hypoplasia?
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What is a potential complication of intrauterine infections?
What is a potential complication of intrauterine infections?
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What condition describes the absence of a normal opening?
What condition describes the absence of a normal opening?
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Which of the following is NOT a major risk factor for prematurity?
Which of the following is NOT a major risk factor for prematurity?
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What is the effect of drugs like valproic acid as teratogens?
What is the effect of drugs like valproic acid as teratogens?
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Which type of fetal presentation is least likely to lead to oligohydramnios?
Which type of fetal presentation is least likely to lead to oligohydramnios?
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What is a characteristic consequence of uteroplacental insufficiency?
What is a characteristic consequence of uteroplacental insufficiency?
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What does hypertrophy refer to in developmental terms?
What does hypertrophy refer to in developmental terms?
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Which of the following describes the fetal period of development?
Which of the following describes the fetal period of development?
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What potential complication is a result of excessive sedation of the mother during delivery?
What potential complication is a result of excessive sedation of the mother during delivery?
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Which teratogen is linked to craniofacial defects?
Which teratogen is linked to craniofacial defects?
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What condition is most commonly associated with early onset infections in neonates?
What condition is most commonly associated with early onset infections in neonates?
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What is a likely complication associated with high bilirubin levels in neonates?
What is a likely complication associated with high bilirubin levels in neonates?
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Which of the following best describes Bronchopulmonary Dysplasia?
Which of the following best describes Bronchopulmonary Dysplasia?
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What is the typical radiographic finding associated with pneumatosis intestinalis?
What is the typical radiographic finding associated with pneumatosis intestinalis?
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What is the primary treatment option for neonates with severe hyperbilirubinemia?
What is the primary treatment option for neonates with severe hyperbilirubinemia?
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Which type of hemangioma commonly appears in infancy?
Which type of hemangioma commonly appears in infancy?
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What is the main cause of Fetal Hydrops?
What is the main cause of Fetal Hydrops?
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What condition is characterized by a deficiency of phenylalanine hydroxylase?
What condition is characterized by a deficiency of phenylalanine hydroxylase?
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What is the significance of Rh immunization in pregnancy?
What is the significance of Rh immunization in pregnancy?
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Which of the following describes the pathogenesis of Necrotizing Enterocolitis?
Which of the following describes the pathogenesis of Necrotizing Enterocolitis?
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What is a common cause of late onset neonatal infections?
What is a common cause of late onset neonatal infections?
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What is a typical clinical manifestation of Erythroblastosis Fetalis?
What is a typical clinical manifestation of Erythroblastosis Fetalis?
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What is the primary genetic basis of Galactosemia?
What is the primary genetic basis of Galactosemia?
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What distinguishes primary errors of morphogenesis from secondary destruction?
What distinguishes primary errors of morphogenesis from secondary destruction?
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Which of the following is classified as a malformation?
Which of the following is classified as a malformation?
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What is a potential characteristic outcome of disruptions in congenital anomalies?
What is a potential characteristic outcome of disruptions in congenital anomalies?
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Which type of condition might result from extrinsic disturbances during fetal development?
Which type of condition might result from extrinsic disturbances during fetal development?
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Which congenital anomaly is most likely not directly related to genetic factors?
Which congenital anomaly is most likely not directly related to genetic factors?
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What defines the nature of anomalies that are 'less severe'?
What defines the nature of anomalies that are 'less severe'?
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Which condition exemplifies a disturbance in morphogenesis caused by mechanical force?
Which condition exemplifies a disturbance in morphogenesis caused by mechanical force?
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How can congenital anomalies often be classified based on their developmental stages?
How can congenital anomalies often be classified based on their developmental stages?
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What is a common characteristic of oligohydramnios?
What is a common characteristic of oligohydramnios?
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Which of the following is an example of a malformation syndrome?
Which of the following is an example of a malformation syndrome?
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What condition describes the complete absence of an organ?
What condition describes the complete absence of an organ?
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What is a key consequence of uteroplacental insufficiency?
What is a key consequence of uteroplacental insufficiency?
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Which period is critical for organ development and has peak sensitivity?
Which period is critical for organ development and has peak sensitivity?
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What describes the process of hypoplasia?
What describes the process of hypoplasia?
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What is a defining feature of multifactorial congenital anomalies?
What is a defining feature of multifactorial congenital anomalies?
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Which teratogen is known for disrupting HOX gene expression?
Which teratogen is known for disrupting HOX gene expression?
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What is a major risk factor for preterm premature rupture of membranes (PPROM)?
What is a major risk factor for preterm premature rupture of membranes (PPROM)?
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Which condition may arise from maternal disease states during pregnancy?
Which condition may arise from maternal disease states during pregnancy?
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What primarily characterizes dysplasia?
What primarily characterizes dysplasia?
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What is a consequence of excessive sedation during delivery?
What is a consequence of excessive sedation during delivery?
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What type of anomalies arises due to triploidy and various chromosomal deletions?
What type of anomalies arises due to triploidy and various chromosomal deletions?
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What major complication can arise from ventilator-administered oxygen in neonates?
What major complication can arise from ventilator-administered oxygen in neonates?
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Which condition involves the accumulation of edema fluid in the fetus?
Which condition involves the accumulation of edema fluid in the fetus?
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What is the most common cause of early onset neonatal infection?
What is the most common cause of early onset neonatal infection?
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In the context of perinatal infections, what are the synonymous categories of transmission?
In the context of perinatal infections, what are the synonymous categories of transmission?
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Which of the following is a manifestation of fetal anemia?
Which of the following is a manifestation of fetal anemia?
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What histological feature is commonly associated with Necrotizing Enterocolitis?
What histological feature is commonly associated with Necrotizing Enterocolitis?
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What is the standard treatment for severe hyperbilirubinemia in neonates?
What is the standard treatment for severe hyperbilirubinemia in neonates?
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What condition is characterized by the presence of a bloody stool in infants?
What condition is characterized by the presence of a bloody stool in infants?
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What is the characterizing feature of Erythroblastosis Fetalis in the fetus?
What is the characterizing feature of Erythroblastosis Fetalis in the fetus?
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Which factor is most common for congenital malformations?
Which factor is most common for congenital malformations?
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What complication is linked to the condition called Bronchopulmonary Dysplasia?
What complication is linked to the condition called Bronchopulmonary Dysplasia?
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What is the significant characteristic feature of congenital capillary hemangiomas?
What is the significant characteristic feature of congenital capillary hemangiomas?
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What is a common finding on radiographic examination of pneumatosis intestinalis?
What is a common finding on radiographic examination of pneumatosis intestinalis?
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Which of the following best describes the pathophysiology behind Kernicterus?
Which of the following best describes the pathophysiology behind Kernicterus?
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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.
