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Flashcards in Spot Diagnosis Deck (63)
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1

perianal strep

2

Congenital rubella syndrome

3

congnital rubella syndrome

4

gum changes due to scurvy (vit C deficiency)

5

mastoiditis with post auricular abscess

6

what is this is, and how does it present?

cholesteatoma (presentation: recurrent foul-smelling otorrhea, responds to ototopicals)

7

what is this, and what is your management?

septal hematoma, consult ENT for drainage

8

subglottic hemangioma

9

button battery - requires emergent removal! (step sign)

10

what is this? how do you treat

atypical mycobacterium adenitis

tx: clarithromycin x 7-10 days, f/u in 3 weeks (medical therapy may not work). May need I&D +/- excision.

 

11

air trapping (on right side) due to foreign body - aka localized emphysema

12

H-type fistula (TEF)

13

laryngeal cleft (consider syndromes: VACTRL, CHARGE, opitz frias)

14

PCD with situs inversus - kartageners

15

nasal polyp - associated with CF

16

erythema marginatum associated with rheumatic fever

17

dactylitis, assoc with psoriatic arthritis

18

heliotrope rash associated with dermatomyositis

19

gottran's papules associated with dermatomyositis

20

Trisomy 21

21

what is this associated with, and what is the karyotype? what is the associated cardiac defect?

turner syndrome, 45 XO, coarctation of the aorta

22

what is this, and what is it associated with?

22q11 - cleft palate, thymic hypoplasia, cardiac defects

23

name the syndrome and characteristics

delayed speech, global developmental delay, broad based gait 

"the happy puppet"

angelman syndrome

24

what is this, what are main features?

prader-willi

initial FTT, hypotonia

followed by hyperphagia

25

lisch nodules associated with NF1

26

neurofibromas assoc with NF1 (+ scoliosis)

27

what is this, what is the genetic mutation

fragile x: characterized by macrocephaly, macro-orchidism, CGG trinucleotide repeat (expansion disorder, if > 200 = full mutation, switches gene off)

28

fragile x

29

marfan syndrome

- autosomal dominant

- skeletal changes

- dilated aortic root

- dislocated lens

- fibrillin 1 gene mutation

30

what is it, what is inheritance?

Homocystineuria

- autosomal recessive inheritance