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Heather Borders, MD
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Fong Disease

Case Detail

Anatomy: Musculoskeletal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category:
Created: over 8 years ago
Updated: over 8 years ago
Tags: PEDS
Modality/Study Types: CR
Activities:
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History

10 year old female with knee pain after walking.


Case Images


Diagnosis

Nail-Patella Syndrome (Fong Disease)

Findings

Pelvis XR – Linear sclerotic densities are seen in the mid-ilia bilaterally, representing “iliac horns”.

Bilateral Knee XR – Sunrise view of the knees demonstrates hypoplastic patellae centered in the intercondylar grooves.

Discussion

Patellar hypoplasia can be familial or be associated with nail-patella syndrome, congenital dislocation of the patella or quadriceps contracture.

Fong disease (nail-patella syndrome) is autosomal dominant, related to chromosome 9q. The major clinical manifestations include dysplastic nails, hypoplastic or absent patellae, and nephropathy. Iliac horns are sometimes palpable.



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