Discussion in 'Spot Diagnosis' started by J.P.C. Peper, May 6, 2012.
What's your diagnosis?
I'll post the correct answer in a couple of days.
Hmm, this DDx has hardly any views so far. It's not that hard guys ;-)
Achondroplasia, also known as ‘classic’ dwarfism. It’s caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which results in an abnormal cartilage fomation.
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