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

Bridget Sinnott, Maya Patel

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Article numberbcr-2017-224115
JournalBMJ Case Reports
Volume2018
DOIs
StatePublished - Jan 1 2018

Fingerprint

Noonan Syndrome
Giant Cells
Jaw
Giant Cell Granuloma
Mutation
Genetic Testing
Mandible
Physical Examination
History
Genes
Noonan like syndrome

Keywords

  • calcium and bone
  • endocrine system

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Giant cell lesion of the jaw as a presenting feature of Noonan syndrome. / Sinnott, Bridget; Patel, Maya.

In: BMJ Case Reports, Vol. 2018, bcr-2017-224115, 01.01.2018.

Research output: Contribution to journalArticle

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