History: 10 year old female with this Aunt Minnie finding on scout KUB for a retrograde voiding cystourethrogram.
This is a case of Iliac Horn Syndrome, also called Nail Patella Syndrome or Hereditary Osteo-Onychodysplasia. The finding in the image above of iliac horns is pathognomonic (an aunt minnie for Iliac Horn syndrome). The reason why it is called nail patella syndrome is demonstrated by the image below:
Nail patella syndrome is a congenital disorder seen in about 1 in 50,000 live births, and is caused by mutations in the LMX1B gene. Nail-patella syndrome manifests as deformities of the nails, knees, pelvis, and elbows. Patients with this disorder are at risk for renal disease, which is why this young girl was undergoing a voiding cystourethrogram. Besides the three names already given, nail patella syndrome has also been referred to as Fong disease, osterreicher Syndrome, and Turner-Kieser Syndrome.
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