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 +8  (nbme24#35)

The diagnosis is Osteogenesis Imperfecta. Disease causes a defect in Type 1 Collagen that leads to “brittle bones”, meaning the patients have frequent fractures with little trauma. Type 1 collagen is also a major component of the sclera -> this is what the picture was hinting at (i think?) and it causes “blue sclera”. The sclera are thin/translucent so they look blue due to underlying choroidal veins.

Finally, patients have poor wound healing. Wound repair with granulation tissue involves type 3 collage which is then converted to type 1 collagen during scar formation. Defects in type 1 collagen obviously don’t allow this process to take place.





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