Monday, November 10, 2014

You Nailed It





Challenge: What is this autosomal dominant disorder?

First three images shown under GNU Free Documentation License, fourth image is in the public domain.

2 comments:

RaH said...

Dyskeratosis congenita?
a little help and a description would be nice

Craig Chen said...

nice guess - would explain the nails, but not the other findings
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You Nailed It

This is nail-patella syndrome or osteo-onychodysplasia, characterized by a hypoplastic or absent patella, dystrophic fingernails and toenails, dysplasia of elbows and iliac horns, and variable renal involvement.

Sources: UpToDate; Wikipedia.