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- Title
Genetics of patella hypoplasia/agenesis.
- Authors
Vanlerberghe, C.; Boutry, N.; Petit, F.
- 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.
- Subjects
PATELLA diseases; HUMAN abnormality genetics; LIMB regeneration; APLASTIC anemia; PATELLOFEMORAL joint; TRICHOHEPATOENTERIC syndrome
- Publication
Clinical Genetics, 2018, Vol 94, Issue 1, p43
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13209