N. Mariana S. Vasquez/X
Aug 25, 2026, 11:18
N. Mariana S. Vasquez: USMLE Key Differences – Marfan Syndrome vs. Homocystinuria
N. Mariana S. Vasquez, IMG Physician, shared a post on X:
“Marfan vs Homocystinuria, Both can cause a marfanoid habitus and lens dislocation, but the clues are different.
Marfan syndrome FBN1 mutation
- Lens: up and out
- Aortic root dilation to aortic dissection
- Normal intelligence
- AD inheritance
Homocystinuria Cystathionine β synthase deficiency
- Lens: down and in
- Thrombosis
- Intellectual disability
- AR inheritance
USMLE key: Marfan – Aorta Homocystinuria – Clots and cognitive impairment”
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