Presentation
Right loin pain. ?stones. Bilateral knee discomfort. ?cause
Patient Data
Age: 40 years
Gender: Female
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The left patella is fragmented/hypoplastic.
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The right patella is fragmented/hypoplastic. The menisci and ligaments are intact. The articular cartilage is preserved.
From the case:
Nail-patella syndrome (Fong disease)
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Bilateral posterior superior iliac horns. Tiny calyceal calculus in the right upper pole. An intrauterine contraceptive device in situ.
Case Discussion
The bilateral hypoplastic/fragmented patellae and bilateral posterior superior iliac 'horns' are strongly suggestive of Fong disease, also known as Nail-Patella syndrome or osteo-onychodysplasia. Associations include hypoplastic nails, hypoplastic radial heads & glomerular basement abnormalities.
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