Case: 262

Nail Patella Syndrome

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History: 56 yo female with abdominal pain.
Solution: The radiographs do not show any findings to explain the patients abdominal pain, but there is an incidental finding that is pathognomonic. Specifically, there are bilateral posterior iliac horns. These are seen in the setting of Nail patella syndrome, which is a rare autosomal dominant disorder associated with symmetrical meso and ectodermal anomalies, such as ring and nail abnormalities, renal dysfunction, genu valgum with absence or fragmentation of the patellas and other MSK abnormalities.

Radiograph Images

Questions

The abnormality is centered in the:
  • Bowel
  • Lungs
  • Liver
  • Bones
  • Soft tissues
The finding likely explains the underlying symptoms.
False
What is the finding and most likely underlying diagnosis?
Iliac horns and Nail-patella syndrome