SED-brachydactyly and distinctive speech: Report of a new familial case

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dc.contributor.authorOliveira, Camila Ive Ferreira [UNESP]
dc.contributor.authorFilho, Guaracy Carvalho
dc.contributor.authorSouza, Antonio Soares
dc.contributor.authorFett-Conte, Agnes Cristina
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionFaculdade de Medicina de São José do Rio Preto (FAMERP)
dc.date.accessioned2014-05-27T11:26:15Z
dc.date.available2014-05-27T11:26:15Z
dc.date.issued2011-12-01
dc.description.abstractBackground: Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a syndrome characterized by short stature, disproportionately short limbs, peculiar face, thick and abundant hair, high-pitched and coarse voice, small epiphyses, brachymetacarpalia, brachymetatarsalia and brachy-phalangia of fingers and toes, small pelvis and delayed carpal bone age, among other features. Case Report: We report a Brazilian patient with father, brother and sister presenting with the same typical features of the syndrome. Clinically, he showed disproportionately short stature, rhizo-meso-acromelic shortness of the extremities, short hands and feet, a peculiar distinctive high-pitched voice, peculiar facies, and other features already reported as characteristic of this syndrome. Radiographic fndings included shape anomalies of the vertebral bodies such as cuboid-shaped vertebral bodies, mild scoliosis, short and broad tubular bones, brachymetacarpalia, brachymetatarsalia, and brachy-dactyly, lumbar hyperlordosis, generalized osteopenia, and hypoplastic iliac wings. Conclusions: Few cases have been described, as this is a rare skeletal dysplasia. This paper describes a new familial case of SED-BDS. © The American Journal of Case Reports.en
dc.description.affiliationDepartment of Biology IBILCE/UNESP, São José do Rio Preto, SP
dc.description.affiliationDepartment of Orthopedics and Traumatology Medical School FAMERP/FUNFARME, São José do Rio Preto, São Paulo
dc.description.affiliationDepartment of Imaging Medical School FAMERP/FUNFARME, São José do Rio Preto, São Paulo
dc.description.affiliationDepartment of Molecular Biology Medical School FAMERP/FUNFARME, São José do Rio Preto, São Paulo
dc.description.affiliationUnespDepartment of Biology IBILCE/UNESP, São José do Rio Preto, SP
dc.format.extent189-194
dc.identifierhttp://www.amjcaserep.com/abstract/index/idArt/882136
dc.identifier.citationAmerican Journal of Case Reports, v. 12, p. 189-194.
dc.identifier.doi10.12659/AJCR.882136
dc.identifier.file2-s2.0-84855368546.pdf
dc.identifier.issn1941-5923
dc.identifier.lattes5731856650217859
dc.identifier.scopus2-s2.0-84855368546
dc.identifier.urihttp://hdl.handle.net/11449/72878
dc.language.isoeng
dc.relation.ispartofAmerican Journal of Case Reports
dc.relation.ispartofsjr0,295
dc.rights.accessRightsAcesso restrito
dc.sourceScopus
dc.subjectFantasy island syndrome
dc.subjectSED-BDS
dc.subjectTattoo dysplasia
dc.subjectadolescent
dc.subjectbody size
dc.subjectbone disease
dc.subjectbone growth
dc.subjectbrachydactyly
dc.subjectbrachymetacarpy
dc.subjectbrachymetatarsalia
dc.subjectBrazilian
dc.subjectcase report
dc.subjectepiphysis
dc.subjectethnic group
dc.subjectfamilial disease
dc.subjectfoot
dc.subjectgenetic disorder
dc.subjectgrowth retardation
dc.subjecthand
dc.subjecthuman
dc.subjecthypoplastic iliac wings
dc.subjectlimb
dc.subjectlong bone
dc.subjectlumbar hyperlordosis
dc.subjectmale
dc.subjectossification
dc.subjectosteopenia
dc.subjectphysical examination
dc.subjectscoliosis
dc.subjectshort stature
dc.subjectspondyloepiphyseal dysplasia brachydactyl and distinctive speech
dc.subjectvertebra malformation
dc.titleSED-brachydactyly and distinctive speech: Report of a new familial caseen
dc.typeArtigo
unesp.author.lattes5731856650217859
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências Letras e Ciências Exatas, São José do Rio Pretopt

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