Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family

Chung, Sang Wan; Kang, Eun Ha; Lee, Yun Jong; Ha, You Jung; Song, Yeong Wook

doi:10.3349/ymj.2016.57.5.1290

Cited by 4 publications

(4 citation statements)

References 14 publications

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“…Autosomal dominant SEDT is caused by mutations in the gene encoding type II procollagen α1 chain ( COL2A1 ). These mutations may provide an abnormally short pro-α1 (II) chain or an incorrect amino acid substitution in the pro-α1 (II) chain and affect the immature formation of triple-stranded type II collagen molecules 2 . X-linked SEDT is rare, with an estimated prevalence of 1.7 per 1,000,000, 3 caused by mutations of the TRAPPC2 gene localized in the chromosome Xp22.…”

Section: Discussionmentioning

confidence: 99%

Spondyloepiphyseal Dysplasia Tarda

2019

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S pondyloepiphyseal dysplasia tarda (SEDT) is a hereditary skeletal dysplasia caused by genes involved in bone growth and cartilage maintenance. The platyspondyly and the enlarged long bones characterize the disease due to abnormal enchondral ossification in the vertebral bodies and proximal epiphyses of long bones. These abnormalities and deformities lead to disproportionate dwarfism and expose patients to premature osteoarthritis in multiple joints. The major clinical importance of this rare disorder is its similarity to juvenile idiopathic arthritis, which has different prognosis and treatment. Clinical characteristics, typical radiological findings, dysmorphic features, and absence of synovial inflammation can aid in the exact diagnosis. 1 A few cases of SEDT have been described in the literature. We report clinical and radiological findings of a Moroccan adolescent with SEDT as the diagnosis.

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Section: Discussionmentioning

confidence: 99%

Spondyloepiphyseal Dysplasia Tarda

2019

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“…Many rare genetic disorders affecting the skeleton may clinically present very similarly to JIA, and therefore it is important to remember about them [ 3 – 5 ]. The ILAR criteria allow diagnosis of JIA only after excluding other causes [ 1 , 2 ].…”

Section: Discussionmentioning

confidence: 99%

“…The described patients presented only part of SEDT or collagenopathy symptoms. Radiograms did not reveal platyspondyly, which is supposed to be the most characteristic feature of SED [ 3 , 5 , 10 , 11 ]. However, it is possible that in this patient other symptoms of SEDT may develop in future.…”

Section: Discussionmentioning

confidence: 99%

A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis

Żuber¹,

Nawrotek²,

Sobczyk³

et al. 2018

Reumatologia

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We present a case study of a 9.5-year-old girl affected by chromosome 12 aberration with the suspicion of juvenile idiopathic arthritis (JIA). All the tests performed at the hospital and the presence of a genetic disorder ledus to search for a diagnosisother than JIA. We initially diagnosed spondyloepiphyseal dysplasia tarda (SEDT), which is related to chromosome 12. Certain signs and symptoms of this disease were presented by our patient at the time of admission. After analysing all the tests and the general conditionof the patient, we were unable to confirm this diagnosis. However, it is possible that the symptoms may occur during subsequentyears and may allow confirmation of SEDT in the future.

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“…Hip joint involvement can lead to coxa vara as thigh bones are angled to the body, knee joint participation can lead to genu varum and valgum. Secondary complications include atlantoaxial instability, recurrent otitis media, retinal detachment and myopia, lumbar lordosis, sciatica, and delayed motor development [4]. Some infants have breathing problems due to an underdeveloped and small ribcage.…”

Section: Introductionmentioning

confidence: 99%

Spondyloepiphyseal Dysplasia Congenita: A Rare Cause of Respiratory Distress

Saleem

Anwar

Iftikhar

et al. 2019

Cureus

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Spondyloepiphysal dysplasia (SED) is an inheritable dysplasia of the bone due to a defect in collagen. It has a prevalence of 3.4 per million. It has two important types, congenita and tarda, which are differentiated by the age presentation and heritage mode. SED congenita can present a significant reduction in the upper segment to a lower segment ratio. Collagen mutation results in abnormal growth and development of spine and limb bones. The complex pattern of craniofacial anomalies is due to defective ossification and connective tissue problem. We here present the case of a three-hour-old girl with a short trunk and craniofacial anomalies that brought in respiratory distress to the neonatal intensive care unit. This condition is rare and thus poses a major diagnostic challenge at an early stage.

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Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family

Cited by 4 publications

References 14 publications

Spondyloepiphyseal Dysplasia Tarda

Spondyloepiphyseal Dysplasia Tarda

A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis

Spondyloepiphyseal Dysplasia Congenita: A Rare Cause of Respiratory Distress

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