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Pediatrics > Cong disorders trigger > Flashcards

Cong disorders trigger Flashcards

1
Q

Presents with distal digital hypoplasia and spina bifida

A

anticonvulsant use

Distal digital hypoplasia = phenytoin
spina bifida = VPA

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

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2
Q

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

A

anticonvulsant use in preganncy

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

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3
Q

presents with small/absent ears and tracheoesophageal fistula

A

retinoid/accutane

can also see:
CHD
CNS malfomation
developmental toxicity

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4
Q

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

A

SSRI use in pregnancy

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

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5
Q

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

A

SSRI use in pregnancy

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

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6
Q

presents with flattened philtrum, thin uppper lip and short nose

A

Fetal alcohol syndrome

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

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7
Q

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

A

Fetal alcohol syndrome

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

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8
Q

presents with depression, hyperactivity, impulsivity, inattention, delinquincy

A

marijuana use in pregnancy

ADHD symptoms

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9
Q

presents as low birth weight, prematurity, IUGR

A

opiate maternal use

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10
Q

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

A

benzo/barb

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11
Q

how do you diagnose neonatal abstinence syndrome

A
  • blood tests, urine tox, meconium analysis, hair samples
  • NAS scoring using Finnegan CNS scores
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12
Q

morphine or methadone is first line tx for this

A

NAS

also use phenobarbital for seizures and fentanyl for analgesia

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13
Q

how is marfan’s inheritied

A

autosomal dominant

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14
Q

hypotonia, flattened head and nasal bridge, single palmar crease

A

down syndrome

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

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15
Q

upslanting of palpebral fissures, epicanthal folds and large protruding tongue

A

down syndrome

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

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16
Q

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

A

down syndrome

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17
Q

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

A

down syndrome and turners syndrome

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18
Q

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

A

endawrds syndrome (trisomy 18)

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19
Q

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

A

trisomy 18 (edwards syndrome)

most die by age 1:(

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20
Q

characterized by cutis aplasia and abnormalities in almost every organ system

A

trisomy 13 (patau’s syndrome)

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21
Q

tall thin males with gynecomastia and gonadal dysgenesis

A

klinefelter syndrome (XXY)

normal pubic hair
usually infertile

22
Q

tx with testosterone replacement therapy

A

klinefelter syndrome (XXY)

23
Q

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

A

turner syndrome

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

24
Q

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

A

turner syndrome

25
Q

high risk of aortic dissection with pregnancy in these patients

A

turners syndrome (2/2 coarctation)

26
Q

tx with estrogen therapy and growth hormones

A

turners syndrome

27
Q

what types of chromosomal alterations can klinefelter syndrome have

A

XXY
XXXY
XXXXY

more X’s = more intellectual impairement

28
Q

what gene is mutated in marfans syndrome

A

fibrillin 1 gene on chromosome 15q21.1

29
Q

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

A

marfans syndrome

also see:

30
Q

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

A

marfans syndrome

31
Q

ghent criteria is used for what syndrome

A

marfans

32
Q

tx includes losartan, BB and frequent eye exams

A

marfans

also frequent ECHOs!!! to assess for aortic dissection

33
Q

in this syndrome you MUST restrict strenuous exercise

A

marfans

34
Q

what gene is responsible for fragile X syndrome

A

FMR 1 gene!

mc inhereted cause of mental retardation/cog disability in males

35
Q

mc inhereted cause of mental retardation/cog disability in males

A

fragile X syndrome

36
Q

oblong face, large ears, large testis and hyperextensible joints

A

fragile X syndrome

(also has MVP)

37
Q

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

A

fragile X syndrome

remember most these guys are prisonnnnn

38
Q

what gene is CF inherited on

A

Gene located on long arm of Chromosome 7 - CFTR

39
Q

this leads to increase salt content in sweat glands

A

CF

cannot move Na and Cl properly = increased mucous

40
Q

Ileus, volvulus, intussusception, Infertility, Digital clubbing

A

complications of CF

also obv high susceptibility to respiratory infections and rhinitis

41
Q

positive sweat chloride test using pilocarpine

A

CF

42
Q

Fecal elastase to measure pancreatic insufficiency

A

CF

43
Q

Pancreatic enzyme replacement therapy (PERT) as tx

A

CF

44
Q

must avoid aspartame and eat a lower protein diet

A

PKU

45
Q

X linked recessive disease

A

DMD

46
Q

calf hypertrophy, gowers sign and pointing of toes

A

DMD

47
Q

proximal muscle weakness and elevated CK

A

DMD

48
Q

tx is corticosteroids

A

DMD

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

49
Q

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

A

Ehler’s danlos syndrome

50
Q

when is the beighton scoring system used

A

to measure joingt hypermobility (enhlers danlos)

Pediatrics (41 decks)

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