Literature DB >> 1897569

Noonan-like/multiple giant cell lesion syndrome.

M M Cohen1, R J Gorlin.   

Abstract

A patient with the Noonan-like/multiple giant cell lesion syndrome is reported and the findings in 14 cases are reviewed. Impressive manifestations include short stature, low normal intelligence or developmental delay, ocular hypertelorism, prominent posteriorly angulated ears, giant cell lesions of bones, joints, and/or soft tissues, pectus excavatum, and pulmonic stenosis. It has been difficult to delineate the syndrome because problems in identifying the condition have resulted from incomplete or truncate ascertainment by various medical specialists.

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Year:  1991        PMID: 1897569     DOI: 10.1002/ajmg.1320400208

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  30 in total

1.  The gene for cherubism maps to chromosome 4p16.

Authors:  V Tiziani; E Reichenberger; C L Buzzo; S Niazi; N Fukai; M Stiller; H Peters; F M Salzano; C M Raposo do Amaral; B R Olsen
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  Noonan syndrome: clinical aspects and molecular pathogenesis.

Authors:  M Tartaglia; G Zampino; B D Gelb
Journal:  Mol Syndromol       Date:  2010-01-15

3.  Clinico-pathologic conference AAOMP/IAOP 2008: case 3.

Authors:  M Vered; I O Bello; T Salo; I Allon
Journal:  Head Neck Pathol       Date:  2008-09-13

4.  Multiple craniofacial giant cell lesions.

Authors:  Mahan Mathur; Ricardo Faingold; Jitka Stankova
Journal:  Pediatr Radiol       Date:  2007-04-24

5.  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

6.  Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.

Authors:  Anna Papadopoulou; Michalis Issakidis; Evangelia Gole; Konstantina Kosma; Helen Fryssira; Andreas Fretzayas; Polyxeni Nicolaidou; Sophia Kitsiou-Tzeli
Journal:  Eur J Pediatr       Date:  2011-05-18       Impact factor: 3.183

7.  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 8.  Giant cell lesions in noonan syndrome: case report and review of the literature.

Authors:  Andreia Bufalino; Manoela Carrera; Roman Carlos; Ricardo D Coletta
Journal:  Head Neck Pathol       Date:  2010-04-11

Review 9.  Aggressive giant cell granuloma of the jaws treated with interferon alpha: a report of two cases.

Authors:  J E O'Connell; G J Kearns
Journal:  Ir J Med Sci       Date:  2012-10-26       Impact factor: 1.568

10.  A case of recurrent multifocal central giant cell granulomas.

Authors:  Elizabeth Bilodeau; Khalid Chowdhury; Bobby Collins
Journal:  Head Neck Pathol       Date:  2009-06-11
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