Literature DB >> 3789007

Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis.

J M Pina-Neto, A F Moreno, L R Silva, M A Velludo, E B Petean, M V Ribeiro, L Athayde-Junior, J C Voltarelli.   

Abstract

This is a report on four persons in one family with a condition similar to that described by Ramon et al [Oral Surg 24:436-48, 1967] in two sibs born to a consanguineous couple. Our patients also had mental deficiency, epilepsy, cherubism due to fibrous dysplasia of the maxillae, gingival fibromatosis, hypertrichosis, and stunted growth. This appears to be an autosomal recessive trait in both families. Our patients are the second set reported with this syndrome; they also have juvenile rheumatoid arthritis, which was not described in the family reported by Ramon et al [Oral Surg 24:436-48, 1967]. We conclude that the Ramon syndrome should also include juvenile rheumatoid arthritis.

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Year:  1986        PMID: 3789007     DOI: 10.1002/ajmg.1320250305

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


  11 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.  Cherubism: a case report.

Authors:  Saikrishna Degala; K P Mahesh
Journal:  J Maxillofac Oral Surg       Date:  2013-02-24

3.  The gene for cherubism maps to chromosome 4p16.3.

Authors:  J Mangion; N Rahman; S Edkins; R Barfoot; T Nguyen; A Sigurdsson; J V Townend; D R Fitzpatrick; A M Flanagan; M R Stratton
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

4.  Hereditary gingival fibromatosis in children: a systematic review of the literature.

Authors:  Eirini Boutiou; Ioannis A Ziogas; Dimitrios Giannis; Aikaterini-Elisavet Doufexi
Journal:  Clin Oral Investig       Date:  2020-11-13       Impact factor: 3.573

5.  Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.

Authors:  Reinhard E Friedrich; Jozef Zustin; Andreas M Luebke; Thorsten Rosenbaum; Martin Gosau; Christian Hagel; Felix K Kohlrusch; Ilse Wieland; Martin Zenker
Journal:  In Vivo       Date:  2021 May-Jun       Impact factor: 2.155

6.  Cherubism combined with epilepsy, mental retardation and gingival fibromatosis (Ramon syndrome): a case report.

Authors:  J Suhanya; Chakshu Aggarwal; Khadijah Mohideen; S Jayachandran; I Ponniah
Journal:  Head Neck Pathol       Date:  2009-12-11

Review 7.  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

8.  Multispeciality approach in the management of patient with hereditary gingival fibromatosis: 1-year followup: a case report.

Authors:  T Ramakrishnan; Manmeet Kaur
Journal:  Int J Dent       Date:  2010-12-23

9.  Idiopathic gingival hyperplasia.

Authors:  Ferhat Cekmez; Ozgur Pirgon; Ilhan Asya Tanju
Journal:  Int J Biomed Sci       Date:  2009-06

Review 10.  Gingival fibromatosis: clinical, molecular and therapeutic issues.

Authors:  Katarzyna Gawron; Katarzyna Łazarz-Bartyzel; Jan Potempa; Maria Chomyszyn-Gajewska
Journal:  Orphanet J Rare Dis       Date:  2016-01-27       Impact factor: 4.123

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