title: Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case.
abstract: This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare autosomal recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, progressive intractable spinal malalignment, a typical facies and a propensity to joint dislocation and subluxation. The condition has been described only in 20 children of Afrikaans-speaking parents in South Africa. This is the first report of a non-Afrikaans patient with this genetic entity.
authors.affiliation: Department of Genetics, University of S/moweryao Paulo, Brazil
authors.forename: J M
authors.initials: JM
authors.lastname: Pina-Neto
authors.forename: H L
authors.initials: HL
authors.lastname: Defino
authors.forename: M L
authors.initials: ML
authors.lastname: Guedes
authors.forename: S M
authors.initials: SM
authors.lastname: Jorge
mesh_terms: D001938:Brazil; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007593:Joint Instability / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography