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Pina-Neto, J.M. et al.

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.[1]

References

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. Pina-Neto, J.M., Defino, H.L., Guedes, M.L., Jorge, S.M. Am. J. Med. Genet. (1996) [Pubmed]

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