Twenty-year follow-up of a familial case of PTH1R-associated primary failure of tooth eruption

dc.contributor.authorKanno, Claudia Misue [UNESP]
dc.contributor.authorOliveira, Jose Americo de [UNESP]
dc.contributor.authorGarcia, Jose Fernando [UNESP]
dc.contributor.authorRoth, Helmut
dc.contributor.authorWeber, Bernhard H. F.
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniv Regensburg
dc.date.accessioned2018-11-26T17:24:28Z
dc.date.available2018-11-26T17:24:28Z
dc.date.issued2017-03-01
dc.description.abstractIntroduction: Nonsyndromic primary failure of eruption (PFE) is a rare autosomal dominant disorder of dental eruption with no obvious dental or soft tissue interference. The purposes of this study were to genetically and clinically characterize a family with many members affected by PFE and to describe the natural evolution of the disorder. Methods: Three generations of a family with 18 members, 10 of them clinically affected by PFE, were evaluated periodically during 20 years of clinical follow-up. PFE was observed in varying degrees of severity in both sexes. Clinical presentation became more severe in adulthood. One patient had spontaneous reeruption of 2 posterior teeth. Cervical root resorptions were observed in 3 members. Genetic analysis showed a deleterious heterozygous mutation in intron 9 of the PTH1R gene (c.639-2A>G) and diagnosed an additional affected member. Conclusions: The long-term follow-up of PFE cases in this family permitted the following observations: (1) the onset occurred from the preemergence to the postemergence phases, (2) PFE appeared to be closely related to ankylosis, (3) affected teeth maintained the eruptive potential even in adulthood, (4) the earlier the onset the more severe the open bite, and (5) cervical root resorptions occurred in 3 affected members.en
dc.description.affiliationUniv Estadual Paulista, Aracatuba Dent Sch, Emergency Dept, Aracatuba, SP, Brazil
dc.description.affiliationUniv Estadual Paulista, Aracatuba Dent Sch, Dept Basic Sci, Div Anat, Aracatuba, SP, Brazil
dc.description.affiliationUniv Estadual Paulista, Vet Med Sch Aracatuba, Lab Anim Biochem & Mol Biol, Aracatuba, SP, Brazil
dc.description.affiliationUniv Regensburg, Inst Human Genet, Regensburg, Germany
dc.description.affiliationUnespUniv Estadual Paulista, Aracatuba Dent Sch, Emergency Dept, Aracatuba, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Aracatuba Dent Sch, Dept Basic Sci, Div Anat, Aracatuba, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Vet Med Sch Aracatuba, Lab Anim Biochem & Mol Biol, Aracatuba, SP, Brazil
dc.format.extent598-606
dc.identifierhttp://dx.doi.org/10.1016/j.ajodo.2016.09.012
dc.identifier.citationAmerican Journal Of Orthodontics And Dentofacial Orthopedics. New York: Mosby-elsevier, v. 151, n. 3, p. 598-606, 2017.
dc.identifier.doi10.1016/j.ajodo.2016.09.012
dc.identifier.fileWOS000399004800024.pdf
dc.identifier.issn0889-5406
dc.identifier.urihttp://hdl.handle.net/11449/162690
dc.identifier.wosWOS:000399004800024
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofAmerican Journal Of Orthodontics And Dentofacial Orthopedics
dc.relation.ispartofsjr1,289
dc.rights.accessRightsAcesso aberto
dc.sourceWeb of Science
dc.titleTwenty-year follow-up of a familial case of PTH1R-associated primary failure of tooth eruptionen
dc.typeArtigo
dcterms.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dcterms.rightsHolderElsevier B.V.

Arquivos

Pacote Original
Agora exibindo 1 - 1 de 1
Carregando...
Imagem de Miniatura
Nome:
WOS000399004800024.pdf
Tamanho:
1.41 MB
Formato:
Adobe Portable Document Format
Descrição: