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

dc.contributor.authorHoney, Engela M.
dc.date.accessioned2016-07-08T05:25:16Z
dc.date.available2016-07-08T05:25:16Z
dc.date.issued2016-06
dc.description.abstractSpondyloepimetaphyseal 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.departmentGeneticsen_ZA
dc.description.librarianam2016en_ZA
dc.description.urihttp://www.samj.org.zaen_ZA
dc.identifier.citationHoney, 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.issn0256-9574 (print)
dc.identifier.issn2078-5135 (online)
dc.identifier.other10.7196/SAMJ.2016.v106i6.10994
dc.identifier.urihttp://hdl.handle.net/2263/54427
dc.language.isoenen_ZA
dc.publisherHealth and Medical Publishing Groupen_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.subjectChildrenen_ZA
dc.subjectAfrikaans-speaking communityen_ZA
dc.subjectSouth Africa (SA)en_ZA
dc.subjectSpondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL)en_ZA
dc.subjectB3GALT6 geneen_ZA
dc.titleSpondyloepimetaphyseal dysplasia with joint laxity (Beighton type) : a unique South African disorderen_ZA
dc.typeArticleen_ZA

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