Challenge: What is this autosomal dominant disorder?
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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.
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2 comments:
Dyskeratosis congenita?
a little help and a description would be nice
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.
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