Giant cell lesion of the jaw as a presenting feature of Noonan syndrome

BMJ Case Reports
Bridget P Sinnott, Maya Patel

Abstract

This is a case of a 20-year-old woman who presented with a left jaw mass which was resected and found to be a giant cell granuloma of the mandible. Her history and physical examination were suggestive for Noonan syndrome which was confirmed with genetic testing and the finding of a PTPN11 gene mutation which has rarely been associated with giant cell lesions of the jaw. Given her particular genetic mutation and the presence of a giant cell lesion, we present a case of Noonan-like/multiple giant cell lesion syndrome.

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Citations

Feb 18, 2020·Birth Defects Research·Fernando Adrián RodríguezMariana Inés Aracena Álvarez
Nov 1, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Débora R BertolaChong A Kim

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