AI Article Synopsis
- Trisomy 7p is a rare genetic condition characterized by the duplication of the short arm of chromosome 7.
- It presents with specific radiological features such as large fontanelles, widened sutures, dolicocephaly, and an asymmetrical skull.
- A new observation in this condition is the presence of punctate calcifications in the femoral trochanter region, which has not been documented before.
Article Abstract
Trisomy 7p is a rare condition involving partial or complete duplication of the short arm of chromosome 7. Radiological features include large fontanelles, widened sutures, dolicocephaly and asymmetrical skull. We report a new radiological finding of punctate calcifications in the region of femoral trochanters. This finding has not previously been reported with chromosome 7p duplication.
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| http://dx.doi.org/10.1007/s00247-006-0179-1 | DOI Listing |
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