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74 Cards in this Set
- Front
- Back
primary errors of morphogenesis in which there is intrinsically abnormal developmental process |
malformation |
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secondary destruction of an organ or body region that was previously normal in the development; extrinsic disturbance in morphogenesis |
disruptions |
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extrinsic disturbance of development wherein localized or generalized compression of the growing fetus by about biomechanical forces |
deformation |
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most common underlying factor responsible for deformations |
uterine constraint |
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cascade of anomalies triggered by one initiating aberration |
sequence |
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oligohydramnios sequence |
Potters syndrome |
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constellation of congenital anomalies beloved to be pathologically related which cannot be explained on the basis of a single, local initiating effect |
syndrome |
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absence of an organ due to failure of development of the primodium |
aplasia |
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absence of an organ and its associated primodium |
agenesis |
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most common developmental defect of the forebrain and midface in humans |
holoprosencephaly |
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most common form of short-limb dwarfism |
achondroplasia |
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type of mutation in achondroplasia |
gain-of-function mutation |
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time frame of hazard in rubella infection during pregnancy |
first 8 weeks |
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cataract, heart defects, deafness, and mental retardation fetal defects |
congenital rubella syndrome (4Bs: bingi, bobo, bulag, butas) |
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most common fetal viral infection |
CMV |
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CMV high-risk period during pregnancy |
second trimester |
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drug teratogen that causes limb abnormalities |
thalidomide |
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most widely used teratogen |
alcohol |
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embryonic period |
first 9 weeks |
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teratogen which is an inhibitor of Hedgehog signaling that causes severe craniofacial abnormalities |
cyclopamine |
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antiepileptic teratogen that disrupts expression of HOX proteins |
valproic acid |
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vitamin that is teratogenic if in excess, causing cleft lip and palate |
vitamin A |
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second most common cause of neonatal mortality |
prematurity |
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major cause of preterm labor |
intrauterine infection |
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important cause of growth restriction |
uteroplacental insufficiency |
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most common cause of respiratory distress in the newborn |
hyaline membrane disease |
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deposition of a layer of hyaline proteinaceous material in the peripheral airspaces of infants |
hyaline membrane disease |
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The incidence of RDS is _____ proportional to gestational age |
inversely |
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fundamental defect in RDS |
deficiency of pulmonary surfactant |
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produces surfactant in the lungs |
type II alveolar cells |
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most common location of necrotizing enterocolitis |
terminal ileum, cecum, and right colon |
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most common route of parasitic and viral perinatal infections |
transplacental (hematologic) |
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Parvovirus B19 has a particular tropism for ______ cells |
erythroid |
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early onset sepsis in neonates |
within the first seven days |
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late onset sepsis |
from seven days to three months |
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most common organism in early onset sepsis |
Group B Streptococcus |
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most common cause of bacterial meningitis |
Group B Streptococcus |
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accumulation of edema fluid in the fetus during intrauterine growth |
fetal hydrops |
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hemolytic disease caused by blood group incompatibility between mother and fetus |
immune hydrops |
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fetal red cells may reach the maternal circulation during the last semester when the _____ is no longer present as a barrier |
cytotrophoblast |
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When is RhIg given to decrease the risk for hemolytic disease |
28 weeks AOG and within 72 hours of delivery |
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most common blood type of the infant and the mother who acquire ABO hemolytic disease |
Infant: A or B Mother: O |
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three major causeof nonimmune hydrops |
cardiovascular defects, chromosomal anomalies, and fetal anemia |
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most common cause of nonimmune hydrops |
anemia die to homozygous alpha-thalassemia |
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viral infection that causes hydrops |
Parvovirus B19 |
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two consequences of hydrops (excessive RBC destruction) |
anemia and jaundice |
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most serious threat in fetal hydrops |
kernicterus |
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phenylketunuria type of inheritance |
autosomal recessive |
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phenylketunuria is due to a mutation in the gene encoding the enzyme _____ |
phenylalanine hydroxylase (PAH) |
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biochemical abnormality in PKU |
inability to convert phenylalanine into tyrosine |
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autosomal recessive disorder of galactose metabolism |
galactosemia |
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enzyme involved in the milder form of galactosemia (reaction 1) |
galactokinase |
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emails involved in severe form of galactosemia (reaction 2) |
Galactose-1-phosphate uridyl transferase (GALT) |
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disorder of ion transport in epithelial cells that affects fluid secretion in exocrine glands and the epithelial lining of the respiratory, gastrointestinal, and reproductive tracts |
cystic fibrosis |
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cystic fibrosis mode of inheritance |
autosomal recessive |
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gold standard in diagnosing cystic fibrosis |
CFTR gene sequencing |
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sudden death of an infant under 1 year of age which remains unexplained |
Sudden Infant Death Syndrome (SIDS) |
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most common finding in SIDS |
multiple petechiae |
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microscopically normal cells present in abnormal locations |
heteroropia (choristoma) |
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excessive focal growth of cells and tissues native to the organ |
hamartoma |
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derivation of the most common neoplasms of childhood |
mesenchymal |
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derivation of the most common neoplasms of adulthood |
epithelial |
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most common tumors of infancy |
hemangiomas |
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most common teratoma of childhood |
sacrococcygeal teratoma |
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most common extracranial solid tumor of childhood |
neuroblastoma |
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most frequently diagnosed tumor of infancy |
neuroblastoma |
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common metastatic site of neuroblastoma |
periorbital region |
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most common primary renal tumor of childhood |
Wilms tumor |
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tumor with peak incidence of 2 to 5 years old that involves both of the kidneys |
Wilms tumor |
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syndrome characterized by aniridia, genital anomalies, and mental retardation |
WAGR syndrome |
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three syndromes with a high risk of developing Wilms tumor |
WAGR syndrome, Denys-Drash syndrome and Beckwith-Weidmann syndrome |
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syndrome characterized by gonadal dysgenesis and early-onset nephropathy leading to renal failure |
Denya-Drash syndrome |
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syndrome characterized by enlargement if body organs, macroglossia, hemihypertrophy, omphalocele, and abnormal large cells in the adrenal cortex |
Beckwith-Weidmann syndrome |
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putative precursor lesions of Wilms tumor |
nephrogenic rests |