Multifocal Pigmented Villonodular Synovitis in the Noonan Syndrome

Autor:	Othmane Miri, Nicolas Bonnet, Philippe Lysy, Naima Loucheur, René Gayito, Pierre Louis Docquier
Jazyk:	angličtina
Rok vydání:	2018
Předmět:	Orthopedic surgery RD701-811
Zdroj:	Case Reports in Orthopedics, Vol 2018 (2018)
Druh dokumentu:	article
ISSN:	2090-6749 2090-6757
DOI:	10.1155/2018/7698052
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/52350ef3ec5a426384f6f30cd01656d8 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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