Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case.
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.
Pina-Neto
J M
JM
Department of Genetics, University of S/moweryao Paulo, Brazil
Defino
H L
HL
Guedes
M L
ML
Jorge
S M
SM
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