Peds Genetics

Question 1

Noonan Syndrome

Answer 1

male version of Turners

Question 2

Fragile X testes

Answer 2

Macroorchidism

Question 3

VACTERL

Answer 3

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

Question 4

fair complexion, intellectual disability seizures

Answer 4

think PKU with increased phenylalanine (also mousy odor)

Question 5

fructose intolerance

Answer 5

Aldolace B deficiency

Question 6

jaundice hepatomegaly failure to thrive with normal intake

Answer 6

Galactosemia

Question 7

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

Answer 7

Prader-Willi (compulsive binge-eating)

Question 8

Prader Willi gene

Answer 8

15q11-q13 (loss of paternal copy)

Question 9

Galactosemia enzyme

Answer 9

absence of Galactose-1-phosphate uridyl transferase

Question 10

Beckwith Weidman

Answer 10

macroglossia, omphalocele

Question 11

Beckwith Weidman gene

Answer 11

11p15

Question 12

hand-flapping ataxia seizures

Answer 12

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

Question 13

small testes after puberty normal male external genitalia tall stature

Answer 13

Klinefelter (XXY)

Question 14

Klinefelter karyotype

Answer 14

XXY

Question 15

prominent forehead macroorchidism

Answer 15

Fragile X

Question 16

Lessh Nyhan deficienty

Answer 16

hypoxathine-Guanine phosphoribosyl transferase

Question 17

Lesch-Nyhan presentation

Answer 17

self-mutilation mental retardation extrapyramidal symptoms (choreoathetosis)

Question 18

Long narrow face,

prominent forehead and chin

large ears

macrocephaly

Macroorchidism

Answer 18

Fragile X

Question 19

Flat facies

slanted palpebral fissures

small low-set ears

Excessive skin at nape of neck

sandal toes

Answer 19

Downs

Question 20

hypotonia

microcephaly with protruding metopic suture?

short stature

high arched palate

wide flat nasal bridge

metal retardation

Answer 20

Cri-du-chat

Question 21

Cri-du-chat

Answer 21

hypotonia

microcephaly with protruding metopic suture?

short stature

high arched palate

wide flat nasal bridge

metal retardation

Question 22

Cri-du-chat gene

Answer 22

5p deletion

Question 23

what genetic defect per system does Down syndrome have

cardiac

GI

Neuro

Heme

Endocrine

MSK

Answer 23

Question 24

what is a brushfield spot

Answer 24

white spot on irides found in Down’s

Question 25

Turners and bones

Answer 25

streaked gonads = low estrogen = osteoporosis

Question 26

upward slanted palpebral fissures

Answer 26

Downs

Question 27

gynecomastia

Answer 27

Kleinfelters (loss of Leydig cells?)\_

Question 28

Turner lymph

Answer 28

congnital lymphedema from abdormal development of lymph network = accumulation of protein rich fluid in hands, feet, and neck ## Footnote Thus: webbed neck, cystic hygroma, swelling of hands and feet nail dysplasia and horshoe kidney

Question 29

horshoe kidney

Answer 29

Turners

Question 30

_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_

Answer 30

cerebral palsy

Question 31

cerebral palsy

Answer 31

_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_

Question 32

Very High Yeild Friedreich's Ataxia findings

Answer 32

Neuro: ataxia, dysarthria Skeletal: scoliosis, feet deformities Cardiac: concentric hypertrophic cardiomyopathy

Question 33

Friedreich's Ataxia death

Answer 33

cardiomyopathy and respiratory

Question 34

MCC spinocerebellar ataxia

Answer 34

Friedreich's Ataxia

Question 35

downs GI at risk for

Answer 35

duodenal atresia hirschprungs

Question 36

22q11

Answer 36

DiGeorge

Question 37

DiGeorge

Answer 37

22q11 CATCH Conotruncal Cardiac Defects Abnormal Facies Thymic Aplasia Cleft Palate Hypocalcemia (life threatening hypocalcemia)

Question 38

NF1 dx

Answer 38

MRI

Question 39

NF1 MRI look for what

Answer 39

optic glioma

Question 40

vestibular schwannoma think

Answer 40

NF2

Question 41

Tuberous Sclerosis what constellation of findings what cardiac defect

Answer 41

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

Question 42

CMV vs Toxo

Answer 42

hepatospleenomegally(rubella too) chorioretinitis intracranial calcifications CMV has hearing loss and periventricular calcifications

Question 43

Homocytinuria vs. Marfans lens?

Answer 43

Marfans lens dislocation is upward Homocystinuria lens dislocation is downward

Question 44

Homocystinuria deficiency

Answer 44

low cystathionine synthase

Question 45

Ehlers Danlos

Answer 45

Marfans without the tall staure or lens dislocation or pectus carinatum

Question 46

congenital syphilis

Answer 46

intermittent fever osteitis osteochondritis hepatomegally persistent rhinitis

Question 47

congenital rubella triad

Answer 47

deafness cataracts cardiac defects

Question 48

sweat test

Answer 48

quantitative pilocarpine iontophoresis pilocarpe = cholinergic that indues sweating \>60 is confirmatory

Question 49

Ehlers Danlos vs. Homocystinuria

Answer 49

ED has scoliosis, joint laxity and skin hyperelasticity Not tall like Marfans and Marfans has lens dislocation Homocystinuria has hypercoag

Question 50

Deny's Drash

Answer 50

WT1 gene mutations Wilms Tumor congenital nephropathy gonadal dysgenesis

Question 51

excessive hair over shoulders back short palpebral fissures thin vermillion border smooth philtrum

Answer 51

FAS

Question 52

fetal tobacco use

Answer 52

cleft palate