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Orthopaedics · Genetic bone disorders: nail-patella syndrome
Sample itemA young man has dysplastic fingernails, hypoplastic patellae with recurrent dislocation and bilateral posterior iliac horns on pelvic radiograph. Which organ should be screened?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Kidney
Nail-patella syndrome is an autosomal dominant disorder caused by LMX1B mutation, with nail dysplasia, hypoplastic or absent patellae, elbow abnormalities and iliac horns. Renal involvement with proteinuria and nephropathy can occur, and glaucoma is also associated. Annual urine screening is recommended.
Option by option
A. Thyroid
The thyroid is not typically involved.
B. Pancreas
The pancreas is not typically involved.
C. Spleen
The spleen is not typically involved.
D. Kidney (correct)
Correct. Renal involvement is the key associated problem.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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