Childhood Disease I

Question 1

What are the top 4 congenital malformations?

Answer 1

1) clubfoot
2) patent ductus arteriosus
3) ventricular septal defect
4) cleft lip

Question 2

clut foot

Answer 2

affected foot rotated internally at ankle

Question 3

patent ductus arteriosus

Answer 3

neonate’s ductus arteriosus fails to close after birth

Question 4

atresia

Answer 4

baby regurigates at every feeding

esophagus occluded

Question 5

what is the most common chromosomal disorder

Answer 5

down syndrome

Question 6

what does down syndrome increase risk of

Answer 6

leukemia
alzheimers
infections

Question 7

down syndrome is caused by trisomy of what

Answer 7

chromosome 21

Question 8

what causes maternal age influence in down syndrome

Answer 8

meiotic nondisjunction in ovem

Question 9

what are some common features of down syndrome

Answer 9

simian crease
abundant neck skin
gap between first and second toe

Question 10

what are facial features of down syndrome

Answer 10

flat facial profile
oblique palpbral fissure
epicanthal fold

Question 11

oblique palpebral fissure

Answer 11

upward slant of eyes

Question 12

what type of disease is cystic fibrosis

Answer 12

autosomal recessive

Question 13

what is the defect in cystic fibrosis

Answer 13

defect in epithlial chloride channel protein

Question 14

where is the mutation in cystic fibrosis

Answer 14

both allels of CFTR on chromosome 7q31.2

Question 15

most common mutation in cystic fibrosis leads to deletion of 3 nucleuotides coding for what

Answer 15

phenylalaine

Question 16

what are some clinical features of cystic fibrosis

Answer 16

recurrent pulmonary infection
chronic pancreatis
obstructued vas defenes
secondary biliary cirrhosis

Question 17

age of neonate

Answer 17

0-28 days

Question 18

age of preterm

Question 19

age of post term

Answer 19

> 42 weeks

Question 20

infant

Answer 20

28 days - 1 year

Question 21

what is APGAR

Answer 21

Color
heart rate
respiration
reflex
muscle tone

Question 22

color in APGAR

Answer 22

entirely blue (0)
blue extremities (1)
no cyanosis (2)

Question 23

heart rate in APGAR

Answer 23

absent (0)

100 (2)

Question 24

respirattion in APGAR

Answer 24

absent (0)
weak (1)
strong (2)

Question 25

reflex in APGAR

Answer 25

absent (0) grimace/feeble cry (1) pulls away (2)

Question 26

muscle tone in APGAR

Answer 26

``` none (0) some flexion (1) active movement (2) ```

Question 27

what is the second most common cause of neonatal mortality

Answer 27

prematurity

Question 28

what percent of US general population of infants are preemies

Answer 28

12%

Question 29

signs of prematurity

Answer 29

small thin skin reduced tone, activity extremities not flexed

Question 30

common complications of prematurity

Answer 30

``` hyaline membrane disease necrotizing enterocolitis sepsis intraventricular hemorrhage developmental delay ```

Question 31

problems in baby of a woman who smokes

Answer 31

prematuriy | fetal growth restriction that is asymmetric

Question 32

complications of fetal growth restriction

Answer 32

perinatal asphyxia hypoglycemia meconium aspiration hearing/visual impairment

Question 33

caput succedaneum

Answer 33

scalp swelling caused by pressure of scalp against cervix during delivery

Question 34

win pregnant syphilitic women stillbirth occurs in _____ and of infants carried to term ____ have congential syphilis

Answer 34

1/3 | 2/3

Question 35

when does treponema pallidum cross the placenta

Answer 35

5th month of pregnacy

Question 36

what is the risk to fetus of developing synphilis after exposure

Answer 36

40%

Question 37

signs of congeital synphilis

Answer 37

vesiculobullous rash mulberry molars hutchinson incisors saber shin

Question 38

physical abnormalities seen in congenital rubella ysndrome

Answer 38

``` low birth weight pupuric rash small head size heart defect visual problem ```

Question 39

when do you get congeital rubella syndrome

Answer 39

active maternal rubella virus infection in 1st trimester