Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type) : a unique South African disorder

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dc.contributor.author Honey, E.M.
dc.date.accessioned 2016-07-08T05:25:16Z
dc.date.available 2016-07-08T05:25:16Z
dc.date.issued 2016-06
dc.description.abstract Spondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL) is an autosomal recessive skeletal dysplasia in which stunted stature, articular hypermobility and spinal malalignment are the major manifestations. Structural cardiac abnormalities are sometimes present. Approximately 30 affected children have been recognised previously in the Afrikaans-speaking community in South Africa, and in several, mutations in the B3GALT6 gene have been incriminated. In this article, case details of three additional affected children in two families are documented, and four additional families are mentioned. The Pierre-Robin sequence and unilateral renal agenesis are previously unreported concomitants. The mutational status where known is recorded. en_ZA
dc.description.department Genetics en_ZA
dc.description.librarian am2016 en_ZA
dc.description.uri http://www.samj.org.za en_ZA
dc.identifier.citation Honey, EM 2016, 'Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type) : a unique South African disorder', South African Medical Journal, vol. 106, no. 6, pp. s54-s56. en_ZA
dc.identifier.issn 0256-9574 (print)
dc.identifier.issn 2078-5135 (online)
dc.identifier.other 10.7196/SAMJ.2016.v106i6.10994
dc.identifier.uri http://hdl.handle.net/2263/54427
dc.language.iso en en_ZA
dc.publisher Health and Medical Publishing Group en_ZA
dc.rights © 2016 Health & Medical Publishing Group. This work is licensed under a Creative Commons Attribution-NonCommercial Works License (CC BY-NC 3.0). en_ZA
dc.subject Children en_ZA
dc.subject Afrikaans-speaking community en_ZA
dc.subject South Africa (SA) en_ZA
dc.subject Spondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL) en_ZA
dc.subject B3GALT6 gene en_ZA
dc.title Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type) : a unique South African disorder en_ZA
dc.type Article en_ZA


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