Robbins Infancy And Childhood

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primary errors of morphogenesis in which there is intrinsically abnormal developmental process

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malformation

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secondary destruction of an organ or body region that was previously normal in the development; extrinsic disturbance in morphogenesis

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disruptions

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extrinsic disturbance of development wherein localized or generalized compression of the growing fetus by about biomechanical forces

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deformation

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most common underlying factor responsible for deformations

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uterine constraint

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cascade of anomalies triggered by one initiating aberration

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sequence

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oligohydramnios sequence

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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

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syndrome

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absence of an organ due to failure of development of the primodium

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aplasia

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absence of an organ and its associated primodium

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agenesis

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most common developmental defect of the forebrain and midface in humans

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holoprosencephaly

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most common form of short-limb dwarfism

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achondroplasia

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type of mutation in achondroplasia

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gain-of-function mutation

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time frame of hazard in rubella infection during pregnancy

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first 8 weeks

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cataract, heart defects, deafness, and mental retardation fetal defects

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congenital rubella syndrome (4Bs: bingi, bobo, bulag, butas)

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most common fetal viral infection

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CMV

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CMV high-risk period during pregnancy

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second trimester

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drug teratogen that causes limb abnormalities

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thalidomide

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most widely used teratogen

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alcohol

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embryonic period

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first 9 weeks

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teratogen which is an inhibitor of Hedgehog signaling that causes severe craniofacial abnormalities

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cyclopamine

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antiepileptic teratogen that disrupts expression of HOX proteins

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valproic acid

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vitamin that is teratogenic if in excess, causing cleft lip and palate

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vitamin A

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second most common cause of neonatal mortality

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prematurity

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major cause of preterm labor

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intrauterine infection

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important cause of growth restriction

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uteroplacental insufficiency

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most common cause of respiratory distress in the newborn

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hyaline membrane disease

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deposition of a layer of hyaline proteinaceous material in the peripheral airspaces of infants

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hyaline membrane disease

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The incidence of RDS is _____ proportional to gestational age

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inversely

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fundamental defect in RDS

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deficiency of pulmonary surfactant

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produces surfactant in the lungs

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type II alveolar cells

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most common location of necrotizing enterocolitis

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terminal ileum, cecum, and right colon

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most common route of parasitic and viral perinatal infections

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transplacental (hematologic)

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Parvovirus B19 has a particular tropism for ______ cells

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erythroid

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early onset sepsis in neonates

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within the first seven days

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late onset sepsis

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from seven days to three months

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most common organism in early onset sepsis

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Group B Streptococcus

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most common cause of bacterial meningitis

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Group B Streptococcus

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accumulation of edema fluid in the fetus during intrauterine growth

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fetal hydrops

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hemolytic disease caused by blood group incompatibility between mother and fetus

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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

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cytotrophoblast

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When is RhIg given to decrease the risk for hemolytic disease

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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

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Infant: A or B

Mother: O

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three major causeof nonimmune hydrops

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cardiovascular defects, chromosomal anomalies, and fetal anemia

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most common cause of nonimmune hydrops

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anemia die to homozygous alpha-thalassemia

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viral infection that causes hydrops

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Parvovirus B19

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two consequences of hydrops (excessive RBC destruction)

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anemia and jaundice

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most serious threat in fetal hydrops

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kernicterus

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phenylketunuria type of inheritance

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autosomal recessive

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phenylketunuria is due to a mutation in the gene encoding the enzyme _____

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phenylalanine hydroxylase (PAH)

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biochemical abnormality in PKU

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inability to convert phenylalanine into tyrosine

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autosomal recessive disorder of galactose metabolism

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galactosemia

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enzyme involved in the milder form of galactosemia (reaction 1)

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galactokinase

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emails involved in severe form of galactosemia (reaction 2)

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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

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cystic fibrosis

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cystic fibrosis mode of inheritance

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autosomal recessive

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gold standard in diagnosing cystic fibrosis

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CFTR gene sequencing

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sudden death of an infant under 1 year of age which remains unexplained

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Sudden Infant Death Syndrome (SIDS)

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most common finding in SIDS

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multiple petechiae

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microscopically normal cells present in abnormal locations

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heteroropia (choristoma)

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excessive focal growth of cells and tissues native to the organ

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hamartoma

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derivation of the most common neoplasms of childhood

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mesenchymal

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derivation of the most common neoplasms of adulthood

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epithelial

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most common tumors of infancy

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hemangiomas

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most common teratoma of childhood

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sacrococcygeal teratoma

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most common extracranial solid tumor of childhood

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neuroblastoma

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most frequently diagnosed tumor of infancy

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neuroblastoma

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common metastatic site of neuroblastoma

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periorbital region

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most common primary renal tumor of childhood

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Wilms tumor

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tumor with peak incidence of 2 to 5 years old that involves both of the kidneys

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Wilms tumor

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syndrome characterized by aniridia, genital anomalies, and mental retardation

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WAGR syndrome

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three syndromes with a high risk of developing Wilms tumor

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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

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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

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Beckwith-Weidmann syndrome

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putative precursor lesions of Wilms tumor

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nephrogenic rests