Academic Day Jeopardy

Syndromes

100

Short female with weak femoral pulses

Turner syndrome

200

Pubertal macro-orchidism 

Fragile X syndrome

300

Imprinting error

Prader-Willi syndrome

400

Contiguous gene syndrome

Williams syndrome

500

Posterior embryotoxon

Allagile syndrome

Infectious pathogen

100

Koplik spots

Measles

200

Slapped cheek syndrome

Parvovirus B 19

300

Constipation, ptosis and ophthalmoplegia

Clostridium Botulinum

400

Diffuse conjuctival petechia and intracranial hemorrhage

Bordetella pertussis

500

Brown stained amniotic fluid

Listeria monocytogenes

Development (months)

100

I can draw a circle

36 months

200

You can understand all what I say

48 months

300

I can build a 6 block tower

24 months

400

I lose my Moro reflex 

4 months

500

I know 5 colors

60 months

Name the gene

100

Give me valproic acid and I die

POLG1

200

I'll keep writing my hands at the midline

MECP2

300

I have a back up copy, please use it

SMN1

400

Can you potentate my function, I had a high Immune reactive trypsinogen at birth

CFTR

500

I seize when I'm hot

SCN1A

Fluid and electrolytes

100

Peaked T waves

Hyperkalemia

200

I will pull back water into the nerve cells

idiogenic osmoles

300

Diarrhea with metabolic alkalosis

Congenital chloride diarrhea

400

I can't excrete hydrogen in the urine

RTA type 1 ( distal)

500

I banged my head and my serum sodium became low

Cerebral salt wasting