I put together these medical challenges. The cases are hypothetical and do not necessarily represent actual or typical presentations of medical diseases. Disclaimer is at the bottom of this page.
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.
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.
Dyskeratosis congenita?
ReplyDeletea little help and a description would be nice
nice guess - would explain the nails, but not the other findings
ReplyDelete-
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.