A Case of Spondyloepiphyseal Dysplasia Tarda (SEDT) Misdiagnosed as Ankylosing Spondylitis

Oh, Il Hwan; Song, June Seok; Rim, Dong Hwi; Choi, Jong Wook; Lee, Seunghun; Lee, Joohyun; Kim, Tae‐Hwan

doi:10.4078/jrd.2011.18.4.311

Cited by 3 publications

(3 citation statements)

References 9 publications

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“…After radiographic evaluations, SEDT was diagnosed clinically, but without genetic testing. 12) Most SEDT patients are expected to have normal life, although the joint deformities are progressive and degenerative or restrictive changes can lead to severe joint impairments. Short stature is common in this condition and ongoing psychosocial support of the patient and the family is important with appropriate genetic counseling.…”

Section: Discussionmentioning

confidence: 99%

A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation

et al. 2012

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chest. Heterozygous female carriers are usually clinically and radiographically normal.5) Radiologic evaluations can reveal narrow disc spaces and moderate epiphyseal dysplasia. These characteristic constellation of radiologic findings can be seen in the lateral view of the thoraco-lumbar spine; narrowing of inter vertebral disc spaces, and pathognomonic superior and inferior 'humps' involving the posterior two-thirds of the flattened ver tebral bodies. 6)In most cases, there's no specific or mild subjective symptom. However, severe epiphyseal dysplasia can lead to premature secondary osteoarthritis affecting the spine and hip joints, often requiring hip replacement and resulting in significant morbidity. Here we report a case of SEDT with a novel frameshift mutation in TRAPPC2. To our knowledge, this is the first Korean report with SEDT confirmed by genetic testing. Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings are charac terized by narrow intervertebral disc spaces and moderate epiphyseal dysplasia of long bones. Here we report a case of SEDT with a novel frameshift mutation in TRAPPC2, the disease-causing gene of SEDT. This is the first Korean report with SEDT confirmed by genetic testing.

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Section: Discussionmentioning

confidence: 99%

A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation

et al. 2012

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“…One case was misdiagnosed as having ankylosing spondylitis, after radiographic evaluations, SED tarda was diagnosed clinically, but without genetic testing. 13 Genetic test was performed in the other cases, and they were reported as X-linked inheritance by the identification of a TRAPPC2 mutation. 14 15 The authors reviewed the SED tarda cases reported in Korea ( Table 1 ).…”

Section: Discussionmentioning

confidence: 99%

Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family

et al. 2016

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Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia. Their radiographs revealed typical changes for SED tarda including platyspondyly and dysplastic bone changes. This rare disease has major clinical importance in that it is similar with JIA or rheumatoid arthritis.

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“…The traditional diagnostic methods of SEDT depend on the typical clinical manifestations and imaging changes in the patients after the onset of the disease [5]. In affected families, a diagnosis can be established by genetic screening of asymptomatic young individuals [6].…”

Section: Introductionmentioning

confidence: 99%

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

Kong

Wang

et al. 2018

International Journal of Endocrinology

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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.

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A Case of Spondyloepiphyseal Dysplasia Tarda (SEDT) Misdiagnosed as Ankylosing Spondylitis

Cited by 3 publications

References 9 publications

A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation

A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation

Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family

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

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