13) The skeletal features include absent or hypoplastic patellae, patellar dislocations, elbow abnormalities, talipes, and iliac horns as seen on radiographs.
Skeletal anomalies--the most frequent are: absent or hypoplastic patellae, iliac horns (pathognomic), dysplastic elbows.
Radiograph of pelvis (AP) showed bilateral iliac horns suggestive of iliac fongs.
Magnetic resonance imaging was done for the mother to exactly delineate the iliac horns and their anatomical relationship with surrounding structures.
The iliac horns were shown to be located at the insertions of gluteus muscles; however, the kidneys were morphologically normal.
Although the diagnosis of nail patella syndrome can be established in early infancy through the radiographic demonstration of iliac horns, this disorder is rarely diagnosed in infancy.
Pathognomic radiological features of iliac horns are present in 30-70% of patients.
If the diagnosis of NPS is indicated, the presence of the iliac horns can confirm this syndrome.
RADIOLOGIC DIAGNOSIS: Bilateral patellar hypoplasia with bilateral iliac horns consistent with Nail Patella Syndrome.
1) It was first described by Little (2,8) in 1897 as characterized by hypoplastic or absent patellae, dystrophic nails, elbow dysplasia, and iliac horns.
The iliac horns are pathognomonic for NPS and can be palpable by physical examination, but they do not cause symptoms or gait disturbances.
Hawkins CF, Smith OE (1950) Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns.