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Multifocal Electroretinograms
Published on: December 4, 2011
Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome
Othmane Miri1, Nicolas Bonnet2, Philippe Lysy2
1Cliniques Universitaires Saint-Luc, Service d'Orthopédie et de Traumatologie de l'Appareil Locomoteur, Avenue Hippocrate 10, B-1200 Brussels, Belgium.
Abstract:
Noonan-like/multiple giant cell lesion (NS/MGCL) is a rare condition overlapping with Noonan syndrome. Once thought to be a specific and separate entity, it is now suggested to be a variant of the Noonan syndrome spectrum. We report the case of an 8-year-old boy with a typical clinical picture of Noonan syndrome with a de novo germline mutation of PTPN11 (c.854 T>C). During his follow-up, the patient developed multifocal pigmented villonodular synovitis which first affected the left knee and shortly after both elbows.
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