Flashcards in Diseases of infancy and childhood I Deck (26)
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1
what percentage of congenital anomalies are unknown?
40-60%
2
what percentage of congenital abnormalities are of multifactorial etiology?
20-25%
3
what is the frequency per 10,000 birth of clubfoot without CNS involvement?
25.7 (1)
4
what is the frequency per 10,000 birth of PDA?
16.9 (2)
5
what is the frequency per 10,000 birth of VSD?
10.9 (3)
6
what is the frequency per 10,000 birth of cleft lip with or without palate involvement?
9.1 (4)
7
what is the most common leukemia affecting patients with Down syndrome?
acute megakaryoblastic leukemia
8
what is the incidence of Down syndrome?
1 in 700 births
9
what is the maternal age influence on Down syndrome?
meiotic nondisjunction in ovum
10
what is the inheritance of CF?
autosomal recessive
11
what is the incidence of CF in the US?
1 in 3200 live births
12
what is the principle defect in CF?
defect in chloride ion channel transport resulting in high salt concentration in exocrine glands and viscous luminal fluid of respiratory, GI, and reproductive tracts
13
what is the most common mutation in CF?
deletion of 3 nucleotides coding for phenylalanine at amino acid position 508 (severe) - 70% of mutations
14
what is the CFTR defect in sweat ducts? airway?
1. sweat ducts - chloride cannot be reabsorbed from lumen, so neither does sodium - salty sweat 2. airway - chloride cannot leave cell - water enters and cannot leave - dehydrated mucus
15
definition: neonate age
0-28 days
16
definition: term, preterm, post-term
1. term: 38-42 weeks 2. preterm: less than 37 weeks 3. post term: greater than 42 weeks
17
definition: infant age
28 days - 1 year
18
definition: child age
1-17 years
19
definition: fetal growth restriction
fetal weight below 10th percentile for gestational age
20
what are fetal causes of fetal growth restriction?
chromosomal disorders, congenital malformations, infections (symmetric - all systems similarly affected)
21
what are placental causes of fetal growth restriction?
placenta anomalies, infection, confined mosaicism (asymmetric - disproportionate - brain spared)
22
what are maternal causes of fetal growth restriction?
preeclampsia, chronic hypertension, malnutrition, renal disease, drugs, smoking
23
what are the causes of transplacental infections?
TORCH - toxoplasmosis, other, rubella, CMV, herpes other - listeriosis, syphilis, HIV, HBV, parvo B19
24
when does treponema pallidum cross the placenta?
5th month
25
when is congenital rubella syndrome acquired?
active maternal rubella infection during 1st trimester
26
