need help with your account or subscription? click here to email us (or see the contact page)
join telegramNEW! discord
jump to exam page:
search for anything ⋅ score predictor (โ€œpredict me!โ€)

Retired NBME 17 Answers

nbme17/Block 4/Question#36 (reveal difficulty score)
A male newborn has macrocephaly with poor ...
Collagen ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
tags: biochem msk

 Login (or register) to see more


 +7  upvote downvote
submitted by โˆ—waitingonprometric(264)
get full access to all contentpick a username

I think that this is osteogenesis imperfecta based on the hx of several fractures that occurred during birth.

From FA2019, pg. 51: Manifestations can include--multiple fractures with bone deformities and minimal trauma; may occur during the birth process

OI is caused by gene defects in COL1A1 and COL1A2; most common form is autosomal dominant with decreased production of normal type 1 collagen.

get full access to all contentpick a username
cheesetouch  FA2018 P 51 +
peteandplop  If you've ever seen Unbreakable, the main villain (Mr. Glass) has OI and is born with many broken bones--memorable scene to remember this disease (https://youtu.be/5E69-oJ7TDc?t=100); Other memory device, OI = bONEs for Collagen Type ONE +11
jurrutia  But what explains the poor skull mineralization? OI does not affect mineralization. +
lukin4answer  @jurrutia poor mineralization due to defective osteoid matrix. Osteoid composed of Col I. +1



 -1  upvote downvote
submitted by โˆ—soccerfan23(7)
get full access to all contentpick a username

I believe that patient has achondroplasia because the short limbs and macrocephaly are a sign of failed endochondral ossification where cartilage is laid down by chondrocytes before it is converted into woven bone. Since cartilage is made out of collagen, that's the answer.

get full access to all contentpick a username
neoamin  it's the one I thought of but I don't think the patient would have fractures at birth. +
blastocyte101  I think the misshaped long bones is such a distractor +



Must-See Comments from nbme17

cassdawg on Membrane lipid peroxidation
cassdawg on Haemophilus influenzae type b
cassdawg on Pelvic Splanchnic
cassdawg on Actinic keratosis
cassdawg on Early septic shock
cassdawg on Epinephrine
flapjacks on Placebo effect
cassdawg on 0.9% Saline
waitingonprometric on Tubular adenoma
bingcentipede on Surface kappa:surface lambda ratio
cassdawg on Free T4
tinyhorse on 25%
cassdawg on Absence of functional LDL receptors in ...
bingcentipede on Residual volume: โ†‘; Arterial PO2: โ†“; ...

search for anything NEW!