Cong disorders trigger

Question 1

Presents with distal digital hypoplasia and spina bifida

Answer 1

anticonvulsant use

Distal digital hypoplasia = phenytoin
spina bifida = VPA

can also see:
small head
anteverted nares
cleft lip/palate

Question 2

presents with anteverted nares, cleft lip/palate and small head

Answer 2

anticonvulsant use in preganncy

can also see:
Distal digital hypoplasia = phenytoin
spina bifida = VPA

Question 3

presents with small/absent ears and tracheoesophageal fistula

Answer 3

retinoid/accutane

can also see:
CHD
CNS malfomation
developmental toxicity

Question 4

presents with irritability/seizures, agitation, tremors, and hypertonia

Answer 4

SSRI use in pregnancy

also see:
increased respirations, nasal congestion, D/V, feeding dificulty

Question 5

increased respirations, nasal congestion, D/V, feeding dificulty

Answer 5

SSRI use in pregnancy

also see;
presents with irritability/seizures, agitation, tremors, and hypertonia

Question 6

presents with flattened philtrum, thin uppper lip and short nose

Answer 6

Fetal alcohol syndrome

also see;
cardiac abnormalities, NTD, midface hypoplasia, poor head growth, shortness. neurobehavioral issues

Question 7

cardiac abnormalities, NTD, midface hypoplasia, poor head growth, shortness. neurobehavioral issues

Answer 7

Fetal alcohol syndrome

also see:
flattened philtrum, thin upper lip and short nose

Question 8

presents with depression, hyperactivity, impulsivity, inattention, delinquincy

Answer 8

marijuana use in pregnancy

ADHD symptoms

Question 9

presents as low birth weight, prematurity, IUGR

Answer 9

opiate maternal use

Question 10

this medication has a log half life and therefore takes longer to present with withdrawal symptoms

Answer 10

benzo/barb

Question 11

how do you diagnose neonatal abstinence syndrome

Answer 11

• blood tests, urine tox, meconium analysis, hair samples
• NAS scoring using Finnegan CNS scores

Question 12

morphine or methadone is first line tx for this

Answer 12

NAS

also use phenobarbital for seizures and fentanyl for analgesia

Question 13

how is marfan’s inheritied

Answer 13

autosomal dominant

Question 14

hypotonia, flattened head and nasal bridge, single palmar crease

Answer 14

down syndrome

also see;
upslanting of palpebral fissures, epicanthal folds and large protruding tongue

Question 15

upslanting of palpebral fissures, epicanthal folds and large protruding tongue

Answer 15

down syndrome

also see:
hypotonia, flattened head and nasal bridge, single palmar crease

Question 16

this cong disorder increases risk of leukemia, polycythemia, thyroid disease, CHD and GI anomalies (celiac)

Answer 16

down syndrome

Question 17

labs show increased hcg and inhibin A and decreased estriol and AFP

Answer 17

down syndrome and turners syndrome

Question 18

labs show low estriol and very low hcg but normal inhibin A and AFP

Answer 18

endawrds syndrome (trisomy 18)

Question 19

clenched fists, rounded feet, low birth weight and cardiac defects are all signs of what?

Answer 19

trisomy 18 (edwards syndrome)

most die by age 1:(

Question 20

characterized by cutis aplasia and abnormalities in almost every organ system

Answer 20

trisomy 13 (patau’s syndrome)

Question 21

tall thin males with gynecomastia and gonadal dysgenesis

Answer 21

klinefelter syndrome (XXY)

normal pubic hair
usually infertile

Question 22

tx with testosterone replacement therapy

Answer 22

klinefelter syndrome (XXY)

Question 23

low set/malformed ears, flat nasal bridge, webbed neck and shield chest

Answer 23

turner syndrome

also see;
traingle facies
aortic valve defects (coarctation)
horseshoe kidney
infertility

Question 24

coarctation of aorta and horseshoe kidney is commonly seen in these patients

Answer 24

turner syndrome

Question 25

high risk of aortic dissection with pregnancy in these patients

Answer 25

turners syndrome (2/2 coarctation)

Question 26

tx with estrogen therapy and growth hormones

Answer 26

turners syndrome

Question 27

what types of chromosomal alterations can klinefelter syndrome have

Answer 27

XXY XXXY XXXXY more X's = more intellectual impairement

Question 28

what gene is mutated in marfans syndrome

Answer 28

fibrillin 1 gene on chromosome 15q21.1

Question 29

flat footed, pectus excavatum/carinatum, and down slant palpebral fissures are for what disease

Answer 29

marfans syndrome also see:

Question 30

cataracts, dislocated lense, scoliosis and joint laxity are seen in what dx

Answer 30

marfans syndrome

Question 31

ghent criteria is used for what syndrome

Answer 31

marfans

Question 32

tx includes losartan, BB and frequent eye exams

Answer 32

marfans also frequent ECHOs!!! to assess for aortic dissection

Question 33

in this syndrome you MUST restrict strenuous exercise

Answer 33

marfans

Question 34

what gene is responsible for fragile X syndrome

Answer 34

FMR 1 gene! mc inhereted cause of mental retardation/cog disability in males

Question 35

mc inhereted cause of mental retardation/cog disability in males

Answer 35

fragile X syndrome

Question 36

oblong face, large ears, large testis and hyperextensible joints

Answer 36

fragile X syndrome (also has MVP)

Question 37

tx with genetic counseling, behavioral therapy, psych/developmental specialists

Answer 37

fragile X syndrome remember most these guys are prisonnnnn

Question 38

what gene is CF inherited on

Answer 38

Gene located on long arm of Chromosome 7 - CFTR

Question 39

this leads to increase salt content in sweat glands

Answer 39

CF cannot move Na and Cl properly = increased mucous

Question 40

Ileus, volvulus, intussusception, Infertility, Digital clubbing

Answer 40

complications of CF also obv high susceptibility to respiratory infections and rhinitis

Question 41

positive sweat chloride test using pilocarpine

Answer 41

CF

Question 42

Fecal elastase to measure pancreatic insufficiency

Answer 42

CF

Question 43

Pancreatic enzyme replacement therapy (PERT) as tx

Answer 43

CF

Question 44

must avoid aspartame and eat a lower protein diet

Answer 44

PKU

Question 45

X linked recessive disease

Answer 45

DMD

Question 46

calf hypertrophy, gowers sign and pointing of toes

Answer 46

DMD

Question 47

proximal muscle weakness and elevated CK

Answer 47

DMD

Question 48

tx is corticosteroids

Answer 48

DMD most die in 20s d/t resp or cardiac dz

Question 49

Joint hypermobility, cutaneous fragility, hyperextensibility with Aortic aneurysms, valvular prolapse, or spontaneous pneumothorax

Answer 49

Ehler's danlos syndrome

Question 50

when is the beighton scoring system used

Answer 50

to measure joingt hypermobility (enhlers danlos)