Childhood Disease I Flashcards
What are the top 4 congenital malformations?
1) clubfoot
2) patent ductus arteriosus
3) ventricular septal defect
4) cleft lip
clut foot
affected foot rotated internally at ankle
patent ductus arteriosus
neonate’s ductus arteriosus fails to close after birth
atresia
baby regurigates at every feeding
esophagus occluded
what is the most common chromosomal disorder
down syndrome
what does down syndrome increase risk of
leukemia
alzheimers
infections
down syndrome is caused by trisomy of what
chromosome 21
what causes maternal age influence in down syndrome
meiotic nondisjunction in ovem
what are some common features of down syndrome
simian crease
abundant neck skin
gap between first and second toe
what are facial features of down syndrome
flat facial profile
oblique palpbral fissure
epicanthal fold
oblique palpebral fissure
upward slant of eyes
what type of disease is cystic fibrosis
autosomal recessive
what is the defect in cystic fibrosis
defect in epithlial chloride channel protein
where is the mutation in cystic fibrosis
both allels of CFTR on chromosome 7q31.2
most common mutation in cystic fibrosis leads to deletion of 3 nucleuotides coding for what
phenylalaine
what are some clinical features of cystic fibrosis
recurrent pulmonary infection
chronic pancreatis
obstructued vas defenes
secondary biliary cirrhosis
age of neonate
0-28 days
age of preterm
age of post term
> 42 weeks
infant
28 days - 1 year
what is APGAR
Color heart rate respiration reflex muscle tone
color in APGAR
entirely blue (0) blue extremities (1) no cyanosis (2)
heart rate in APGAR
absent (0)
100 (2)
respirattion in APGAR
absent (0)
weak (1)
strong (2)
reflex in APGAR
absent (0)
grimace/feeble cry (1)
pulls away (2)
muscle tone in APGAR
none (0) some flexion (1) active movement (2)
what is the second most common cause of neonatal mortality
prematurity
what percent of US general population of infants are preemies
12%
signs of prematurity
small
thin skin
reduced tone, activity
extremities not flexed
common complications of prematurity
hyaline membrane disease necrotizing enterocolitis sepsis intraventricular hemorrhage developmental delay
problems in baby of a woman who smokes
prematuriy
fetal growth restriction that is asymmetric
complications of fetal growth restriction
perinatal asphyxia
hypoglycemia
meconium aspiration
hearing/visual impairment
caput succedaneum
scalp swelling caused by pressure of scalp against cervix during delivery
win pregnant syphilitic women stillbirth occurs in _____ and of infants carried to term ____ have congential syphilis
1/3
2/3
when does treponema pallidum cross the placenta
5th month of pregnacy
what is the risk to fetus of developing synphilis after exposure
40%
signs of congeital synphilis
vesiculobullous rash
mulberry molars
hutchinson incisors
saber shin
physical abnormalities seen in congenital rubella ysndrome
low birth weight pupuric rash small head size heart defect visual problem
when do you get congeital rubella syndrome
active maternal rubella virus infection in 1st trimester
