Genetics of patella hypoplasia/agenesis.

Genetics of patella hypoplasia/agenesis.
Clin Genet. 2018 Jan 11;:
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, patello-femoral 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.
PMID: 29322497 [PubMed - as supplied by publisher]

Source: Clinical Genetics - January 11, 2018 Category: Genetics & Stem Cells Authors: Vanlerberghe C, Boutry N, Petit F Tags: Clin Genet Source Type: research