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Mol Syndromol. 2017 Nov;8(6):303-307. doi: 10.1159/000479672. Epub 2017 Sep 7.

Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations.

Author information

1
Shriners Hospital for Children and McGill University, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Québec, Canada.
2
Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Québec, Canada.

Abstract

Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is a rare entity with a recessive inheritance. In this report, we describe 3 affected members of the same family who present with short stature, hyperlaxity with secondary spinal malalignment, ulnar subluxation, developmental dysplasia of the hips, and craniofacial alterations; one member also had learning difficulties. DNA analysis showed compound heterozygous variants in the B3GALT6 gene (c.901_921dup, c.511C>T) in all 3 patients, inherited from the parents. This family demonstrates the clinical variability of SEMDJL1.

KEYWORDS:

B3GALT6; Joint laxity; Skeletal dysplasia; Spondyloepimetaphyseal dysplasia

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