Genetics of patella hypoplasia/agenesis. Issue 1 (11th April 2018)

• Record Type: Journal Article
• Authors: Vanlerberghe, C.; Boutry, N.; Petit, F.
• Is Part Of: Clinical genetics. Volume 94:Issue 1(2018)
• Page Start: 43
• Page End: 53
• Publication Date: 2018-04-11
• Subjects: patella agenesis -- limb development -- TBX4 -- patella hypoplasia; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13209
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract : The patella is a sesamoid bone, crucial for knee stability. When absent or hypoplastic, recurrent knee subluxations, patellofemoral dysfunction and early gonarthrosis may occur. Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either as the main clinical feature (Nail‐patella syndrome, small patella syndrome), as a clue feature which can help diagnosis assessment, or as a background feature that may be disregarded. Even in the latter, the identification of patella anomalies is important for an appropriate patient management. We review the clinical characteristics of these rare diseases, provide guidance to facilitate the diagnosis and discuss how the genes involved could affect patella development. Abstract :