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Peds Clerkship > Peds Genetics > Flashcards

Peds Genetics Flashcards

1
Q

Noonan Syndrome

A

male version of Turners

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2
Q

Fragile X testes

A

Macroorchidism

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3
Q

VACTERL

A

birth defects: vertebral, anal atresia, cardiac, tracheoesophageal fistula, renal, limb

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4
Q

fair complexion, intellectual disability seizures

A

think PKU with increased phenylalanine (also mousy odor)

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5
Q

fructose intolerance

A

Aldolace B deficiency

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6
Q

jaundice hepatomegaly failure to thrive with normal intake

A

Galactosemia

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7
Q

weak suck hypotonia short stature obese narrow forehead almond-shaped eyes downturned mouth

A

Prader-Willi (compulsive binge-eating)

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8
Q

Prader Willi gene

A

15q11-q13 (loss of paternal copy)

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9
Q

Galactosemia enzyme

A

absence of Galactose-1-phosphate uridyl transferase

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10
Q

Beckwith Weidman

A

macroglossia, omphalocele

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11
Q

Beckwith Weidman gene

A

11p15

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12
Q

hand-flapping ataxia seizures

A

Angelman (smiling/laughter) 15q11-q13 (loss of maternal copy)

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13
Q

small testes after puberty normal male external genitalia tall stature

A

Klinefelter (XXY)

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14
Q

Klinefelter karyotype

A

XXY

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15
Q

prominent forehead macroorchidism

A

Fragile X

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16
Q

Lessh Nyhan deficienty

A

hypoxathine-Guanine phosphoribosyl transferase

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17
Q

Lesch-Nyhan presentation

A

self-mutilation mental retardation extrapyramidal symptoms (choreoathetosis)

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18
Q

Long narrow face,

prominent forehead and chin

large ears

macrocephaly

Macroorchidism

A

Fragile X

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19
Q

Flat facies

slanted palpebral fissures

small low-set ears

Excessive skin at nape of neck

sandal toes

A

Downs

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20
Q

hypotonia

microcephaly with protruding metopic suture?

short stature

high arched palate

wide flat nasal bridge

metal retardation

A

Cri-du-chat

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21
Q

Cri-du-chat

A

hypotonia

microcephaly with protruding metopic suture?

short stature

high arched palate

wide flat nasal bridge

metal retardation

22
Q

Cri-du-chat gene

A

5p deletion

23
Q

what genetic defect per system does Down syndrome have

cardiac

GI

Neuro

Heme

Endocrine

MSK

24
Q

what is a brushfield spot

A

white spot on irides found in Down’s

25
Q

Turners and bones

A

streaked gonads = low estrogen = osteoporosis

26
Q

upward slanted palpebral fissures

27
Q

gynecomastia

A

Kleinfelters (loss of Leydig cells?)_

28
Q

Turner lymph

A

congnital lymphedema from abdormal development of lymph network = accumulation of protein rich fluid in hands, feet, and neck

Thus: webbed neck, cystic hygroma, swelling of hands and feet

nail dysplasia and horshoe kidney

29
Q

horshoe kidney

30
Q

nonprogressive motor dysfunction

premature birth (leading risk factor)

spastic diplegia (hyperreflexia of LE with feet pointing inward and downward

resistance to passive muscle movement increases “clasp-knife”

intellectual disabilty

A

cerebral palsy

31
Q

cerebral palsy

A

nonprogressive motor dysfunction

premature birth (leading risk factor)

spastic diplegia (hyperreflexia of LE with feet pointing inward and downward

resistance to passive muscle movement increases “clasp-knife”

intellectual disabilty

32
Q

Very High Yeild

Friedreich’s Ataxia findings

A

Neuro: ataxia, dysarthria

Skeletal: scoliosis, feet deformities

Cardiac: concentric hypertrophic cardiomyopathy

33
Q

Friedreich’s Ataxia death

A

cardiomyopathy and respiratory

34
Q

MCC spinocerebellar ataxia

A

Friedreich’s Ataxia

35
Q

downs GI at risk for

A

duodenal atresia

hirschprungs

36
Q

22q11

37
Q

DiGeorge

A

22q11

CATCH

Conotruncal Cardiac Defects

Abnormal Facies

Thymic Aplasia

Cleft Palate

Hypocalcemia (life threatening hypocalcemia)

38
Q

NF1 dx

39
Q

NF1 MRI look for what

A

optic glioma

40
Q

vestibular schwannoma think

41
Q

Tuberous Sclerosis

what constellation of findings

what cardiac defect

A

syndrome associated with intracranial tumors

cardiac rhabdomyoma

facial angiofibromas (adenoma sebaceum)
hypopigmented macules (Ash leaf patches)
Shagreen spots (leathery cutaneous thickening)

menumonic: I remember fibrous leather leaves on the face of a tuba player

42
Q

CMV vs Toxo

A

hepatospleenomegally(rubella too)

chorioretinitis

intracranial calcifications

CMV has hearing loss and periventricular calcifications

43
Q

Homocytinuria vs. Marfans

lens?

A

Marfans lens dislocation is upward

Homocystinuria lens dislocation is downward

44
Q

Homocystinuria deficiency

A

low cystathionine synthase

45
Q

Ehlers Danlos

A

Marfans without the tall staure or lens dislocation or pectus carinatum

46
Q

congenital syphilis

A

intermittent fever

osteitis

osteochondritis

hepatomegally

persistent rhinitis

47
Q

congenital rubella triad

A

deafness

cataracts

cardiac defects

48
Q

sweat test

A

quantitative pilocarpine iontophoresis

pilocarpe = cholinergic that indues sweating

>60 is confirmatory

49
Q

Ehlers Danlos vs. Homocystinuria

A

ED has scoliosis, joint laxity and skin hyperelasticity

Not tall like Marfans and Marfans has lens dislocation

Homocystinuria has hypercoag

50
Q

Deny’s Drash

A

WT1 gene mutations

Wilms Tumor

congenital nephropathy

gonadal dysgenesis

51
Q

excessive hair over shoulders back

short palpebral fissures

thin vermillion border

smooth philtrum

52
Q

fetal tobacco use

A

cleft palate

Peds Clerkship (17 decks)

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