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Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients

dc.contributor.authorOliveira Sobrinho, Ruy Pires de
dc.contributor.authorMoretti-Ferreira, Danilo [UNESP]
dc.contributor.authorContini, Andréia [UNESP]
dc.contributor.authorNorato, Denise Yvonne Janovitz
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-27T11:18:16Z
dc.date.available2014-05-27T11:18:16Z
dc.date.issued1997-10-17
dc.description.abstractMarfan syndrome (MFS) is an autosomal dominant trait due to mutations in the fibrillin gene (FBN1). The MFS expressivity is variable, and its diagnosis relies completely on clinical criteria. Atypical cases and Marfan- like (marfanoid) clinical presentations are commonly found. The metacarpophalangeal pattern profile (MCPP), a radiological method in which the 19 tubular hand bones are assessed, has been used in the diagnosis of various syndromes. To investigate whether the MCPP was adequate to discriminate between MFS and Marfan-like subjects, we studied 38 patients who were referred to our service because they had an MFS diagnosis, diagnostic hypothesis, or differential diagnosis or had arachnodactyly with dolichostenomelia. Two groups were formed: 1) MFS: 21 patients with a mean age of 18.3 (10.8 S.D.) years and 2) Marfan-like syndromes: 16 patients who did not meet the current criteria, with a mean age of 14.6 (4.6 S.D.) years. The MCPP was performed in each case following the classical technique, and a characteristic mean profile was obtained for group I (MFS), with Z scores ranging from 0.69 to 2.73 (1.80 ± 0.50; mean ± S.D.). In group I, three cases had no correlation with the typical MFS pattern. In group II, three cases had an MFS pattern. The correlation with the mean MCPP of MFS permitted the differential diagnosis of MFS and marfanoid syndromes with 86% sensitivity, 81% specificity, and 86% positive and 81% negative predictive values. The results suggest that MCPP can be used effectively as an auxiliary tool in the nosology of these conditions and, because there is no change in MCPP with age, can be helpful in early diagnosis.en
dc.description.affiliationDepartamento de Genética Médica Faculdade de Ciências Médicas Universidade Estadual de Campinas, Campinas SP
dc.description.affiliationServiço de Aconselhamento Genético Departamento de Genética Universidade Estadual Paulista Júlio de Mesquita Filho, Botucatu SP
dc.description.affiliationDepartamento de Genética Médica Universidade Estadual de Campinas (UNICAMP) Cidade Universitária Zeferino Vaz, Distrito de Barao Geraldo, C.P. 1611, Campinas (SP), CEP 13081-970
dc.description.affiliationUnespServiço de Aconselhamento Genético Departamento de Genética Universidade Estadual Paulista Júlio de Mesquita Filho, Botucatu SP
dc.format.extent159-163
dc.identifierhttp://dx.doi.org/10.1002/(SICI)1096-8628(19971017)72:2<159::AID-AJMG7>3.0.CO;2-Q
dc.identifierhttp://onlinelibrary.wiley.com/doi/10.1002/%28SICI%291096-8628%2819971017%2972:2%3C159::AID-AJMG7%3E3.0.CO;2-Q/abstract
dc.identifier.citationAmerican Journal of Medical Genetics, v. 72, n. 2, p. 159-163, 1997.
dc.identifier.doi10.1002/(SICI)1096-8628(19971017)72:2<159::AID-AJMG7>3.0.CO;2-Q
dc.identifier.issn0148-7299
dc.identifier.orcid0000-0002-9256-7623
dc.identifier.scopus2-s2.0-0030761186
dc.identifier.urihttp://hdl.handle.net/11449/65212
dc.identifier.wosWOS:A1997XY73100007
dc.language.isoeng
dc.relation.ispartofAmerican Journal of Medical Genetics
dc.rights.accessRightsAcesso restrito
dc.sourceScopus
dc.subjectDiagnosis
dc.subjectMarfan syndrome
dc.subjectMarfanoid
dc.subjectMetacarpophalangeal pattern profile
dc.subjectadolescent
dc.subjectadult
dc.subjectarachnodactyly
dc.subjectchild
dc.subjectclinical article
dc.subjectclinical feature
dc.subjectcontrolled study
dc.subjectdifferential diagnosis
dc.subjectmarfan syndrome
dc.subjectmetacarpophalangeal joint
dc.subjectpreschool child
dc.subjectpriority journal
dc.subjectschool child
dc.subjectAdolescent
dc.subjectMarfan Syndrome
dc.subjectMetacarpophalangeal Joint
dc.subjectMiddle Aged
dc.subjectPredictive Value of Tests
dc.titleMetacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patientsen
dc.typeArtigo
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dspace.entity.typePublication
unesp.author.orcid0000-0002-9256-7623[2]
unesp.campusUniversidade Estadual Paulista (UNESP), Instituto de Biociências, Botucatupt
unesp.departmentGenética - IBBpt

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