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.


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
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.