Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with Mutations.

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

Shriners Hospital for Children and McGill University, Department of Pediatrics, CHU Sainte-Justine Hospital, University of Montreal, Montreal, Qu├ębec, Canada.

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 gene (c.901_921dup, c.511C>T) in all 3 patients, inherited from the parents. This family demonstrates the clinical variability of SEMDJL1.

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http://dx.doi.org/10.1159/000479672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701276PMC
November 2017
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