Skip Navigation LinksHome > July 2013 - Volume 22 - Issue 4 > Genitopatellar syndrome: a case report of a rare entity wit...
Journal of Pediatric Orthopaedics B:
doi: 10.1097/BPB.0b013e3283528d40
Femur & Knee

Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up

To, Michael; Negandhi, Rajiv; Cheung, Kenneth; Cheung, Wai Yuen; Chow, Wang

Collapse Box


Genitopatellar syndrome is one of the syndromes described in the last decade. It is characterized by agenesis of the corpus callosum, absent or hypoplastic patellae, extremity contractures, skeletal anomalies, urogenital anomalies, and facial dysmorphic features. While writing this report, only 15 cases have been reported in the literature. The etiology, clinical features, management, and natural history of this syndrome are not yet well established. Past reports in the literature have not been able to identify the exact genetic etiology but it somewhat coincides with nail patella syndrome and short patella syndrome. We would like to introduce this terminology to the orthopedic community and highlight the clinical features of the genitopatellar syndrome. To the best of our knowledge, this is a single case report with the longest follow-up of 11 years in the literature.

© 2013 by Lippincott Williams & Wilkins, Inc.


Article Tools


Article Level Metrics

Search for Similar Articles
You may search for similar articles that contain these same keywords or you may modify the keyword list to augment your search.