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.
