Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): A Brazilian case
- 11 January 1996
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 61 (2) , 131-133
- https://doi.org/10.1002/(sici)1096-8628(19960111)61:2<131::aid-ajmg5>3.0.co;2-#
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.Keywords
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