Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy Associated with Early-onset Hip Arthritis – A Case Report

Introduction: Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare inherited dysfunction with autosomal recessive inheritance. SEDT-PA is also named as progressive pseudorheumatoid arthropathy of childhood as it is associated with multiple joint contractures and arthritis. We report a case of SEDT-PA managed with bilateral stage total hip arthroplasty. Case Report: A 22-year-old lady presented with severe bilateral hip arthritis. Based on her clinical and radiological features described in this article, she was diagnosed as having SEDT-PA. She was managed with bilateral stage total hip arthroplasty. The pre-operative planning and technical challenges of performing this procedure have been described. Conclusion: Dysfunctions originally of genetic origin like spondyloepiphyseal dysplasia tarda mimics and is commonly misdiagnosed as juvenile chronic arthritis. These patients have disabling early-onset hip arthritis which requires surgery. Arthroplasty is challenging in these patients because of the low proximal femur offset but good results can be obtained after thorough pre-operative planning to tackle intraoperative difficulties. Keywords: Spondyloepiphyseal dysplasia, Early-onset hip osteoarthritis, Bilateral total hip arthroplasty.

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)

Objective. Spondyloepiphyseal dysplasia tarda (SEDT) is a rare hereditary bone disease characterized by spinal and epiphyseal anomalies. We identified the disease by gene sequencing in a Chinese pedigree with SEDT. Methods. We extracted genomic DNA from five members of a four-generation Chinese SEDT kindred with three affected males and then analyzed the genetic mutation by PCR and DNA sequencing. Results. DNA sequencing showed that the genetic missense mutation occurred one bp upstream of exon 6 in the SEDL gene in two families, and a heterozygous mutation was found in a female carrier. In addition, no mutation was found in the other members of the family. Conclusion. SEDT in this family was caused by a G/C missense mutation in exon 6 of the SEDL gene, previously not shown to be associated with X-linked SEDT.

Spondylo-Epi-Metaphyseal and Spondylo-Metaphyseal Dysplasias

This chapter further discusses bone dysplasias and explores achondrogenesis type 1A, odontochondrodysplasia, Schneckenbecken dysplasia, opsismodysplasia, spondylometaphyseal dysplasia (Sedaghatian type), spondyloenchondrodysplasia, SEMD (PAPSS2 type) and brachyolmia (autosomal recessive type), Dyggve-Melchior-Clausen dysplasia, spondylometaepiphyseal dysplasia (short limb-abnormal calcification type), spondylometaphyseal dysplasia with cone-rod dystrophy, dyssegmental dysplasia, Schwartz-Jampel syndrome, spondyloepiphyseal dysplasia tarda (X-linked), aggrecan-associated skeletal dysplasias, Wolcott-Rallison syndrome, Schimke immunoosseous dysplasia, progressive pseudorheumatoid chondrodysplasia, spondylometaphyseal dysplasia (corner fracture type), sponastrime dysplasia, CODAS syndrome, N-acetyl-neuraminic acid synthase (NANS) deficiency, and spondylo-epi-metaphyseal dysplasia with immune deficiency and developmental disability (EXTL3-deficient type). Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.