Literature DB >> 15790374

Noonan syndrome with giant cell lesions.

S M G Lee1, J C Cooper.   

Abstract

Noonan syndrome is characterised by short stature, unusual facies, congenital heart disease, chest deformity and mild mental retardation. It may be sporadic or inherited as an autosomal dominant trait and occurs between one in 1000-2500. Cherubism is a giant cell lesion of the jaws thought to be transmitted as an autosomal dominant trait. It is usually recognised by age two to four years, follows a variable course, and is not known to be related to other genetic disorders. The purpose of this article is to report a case of multiple giant cell lesions of the mandible that occurred in a patient with phenotypic features of Noonan syndrome. The emerging relationship between these cherubism-like findings and Noonan syndrome will be discussed.

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Year:  2005        PMID: 15790374     DOI: 10.1111/j.1365-263X.2005.00604.x

Source DB:  PubMed          Journal:  Int J Paediatr Dent        ISSN: 0960-7439            Impact factor:   3.455


  5 in total

1.  SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

Authors:  Claire Beneteau; Hélène Cavé; Anne Moncla; Nathalie Dorison; Arnold Munnich; Alain Verloes; Bruno Leheup
Journal:  Eur J Hum Genet       Date:  2009-04-08       Impact factor: 4.246

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

Authors:  Bridget P Sinnott; Maya Patel
Journal:  BMJ Case Rep       Date:  2018-05-30

Review 3.  Cherubism: best clinical practice.

Authors:  Maria E Papadaki; Steven A Lietman; Michael A Levine; Bjorn R Olsen; Leonard B Kaban; Ernst J Reichenberger
Journal:  Orphanet J Rare Dis       Date:  2012-05-24       Impact factor: 4.123

Review 4.  Giant Cell Lesions of the Jaws Involving RASopathy Syndromes.

Authors:  Melissa Luna; Nicholas Wolsefer; Carlos-Xavier Zambrano; Ivan James Stojanov
Journal:  Acta Stomatol Croat       Date:  2022-03

5.  Multiple Unerupted Permanent Teeth Associated with Noonan Syndrome.

Authors:  K S Uloopi; V Madhuri; A S Gopal; C Vinay; R Chandrasekhar
Journal:  Ann Med Health Sci Res       Date:  2015 Jul-Aug
  5 in total

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