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Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case
J M Pina-Neto1, H L Defino, M L Guedes
1Department of Genetics, University of S/moweryao Paulo, Brazil
American Journal of Medical Genetics
|January 11, 1996
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.