Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type <scp>II</scp> collagenopathy

Travessa, André; Díaz‐González, Francisca; Mirco, Teresa; Oliveira-Ramos, Filipa; Parrón‐Pajares, Manuel; Heath, Karen E.; Sousa, Ana Berta

doi:10.1002/ajmg.a.61817

Cited by 3 publications

(2 citation statements)

References 20 publications

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“…Rolvien T. et al [ 31 ] observed a mother and son of 8-year-old with SED with early osteoarthritis, where a variant c.620G>A (p.Gly207Glu) was found. Travessa A.M. et al [ 32 ] reported on an 8-year-old boy with SED, Stanescu type characterized by progressive contractures and premature degenerative joint disease with normal growth.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

Маркова

Kenis²,

Melchenko³

et al. 2022

Genes

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The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the COL2A1 gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing. It has been shown that clinical forms of spondyloepiphyseal dysplasias predominate in childhood, both with more severe clinical manifestations (58%) and with unusual phenotypes of mild forms with normal growth (25%). However, Stickler syndrome, type I was less common (17%). In the COL2A1 gene, 28 novel variants were identified, and a total of 63% of the variants were found in the triple helix region resulted in glycine substitution in Gly-XY repeats, which were identified in patients with clinical manifestations of congenital spondyloepiphyseal dysplasia with varying severity, and were not found in Stickler syndrome, type I and Kniest dysplasia. In the C-propeptide region, five novel variants leading to the development of unusual phenotypes of spondyloepiphyseal dysplasia have been identified.

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Section: Discussionmentioning

confidence: 99%

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

Маркова

Kenis²,

Melchenko³

et al. 2022

Genes

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“…Two forms of SED exist, namely, SED congenita and SED tarda, with SED congenita being clinically more severe. A multidisciplinary approach is essential to manage the pain, improve function and correct the skeletal deformities of these patients [46 ▪ ]. Surgical correction of the kyphosis, scoliosis and hip deformities needs to be tailored to individual patients to improve posture and ameliorate the effects of short stature [47 ▪ ].…”

Section: Evaluation Of Children With Short Staturementioning

confidence: 99%

Orthopedic concerns of a child with short stature

Liau

Wang

Lin

et al. 2021

Current Opinion in Pediatrics

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Purpose of review Pediatric short stature poses severe concerns to the patient, parents, and physicians. Management for pediatric short stature is still widely debated due to heterogenous etiological factors and treatment options. This review will address the approach to pediatric short stature, commonly within the subset of skeletal dysplasia resulting in disproportionate short stature. The following will be discussed: the etiology, clinical, and radiological evaluations, and management for pediatric short stature. Recent findings Early recognition of short stature and appropriate referrals is shown to benefit the patient and reduce parental concern. A multidisciplinary team, comprising an orthopedic surgeon, is fundamental to provide holistic care and ensure overall good quality of life. Advancements in clinical diagnostic tools and diversified treatment modalities today provides optimism in managing pediatric short stature. Summary Skeletal dysplasia can be treated with good prognosis if diagnosed and managed early. Thorough clinical, radiological, laboratory, and even genetic investigations are important to differentiate and manage various types of skeletal dysplasia. Our review will provide a comprehensive and up-to-date approach to skeletal dysplasia for pediatric orthopedic surgeons, and indications for physicians to refer patients with suspected short stature to pediatric orthopedic surgeons.

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Progressive pseudorheumatoid dysplasia involving a novel CCN6 mutation: a case report

Li,

Huang,

Yan

et al. 2024

Front. Immunol.

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ObjectiveThis study aims to report a case of progressive pseudorheumatoid dysplasia (PPRD) with two kinds of cellular communication network factor 6 (CCN6) gene mutation. In this paper, the clinical profile and the process of diagnosis were analyzed, and the related literature was reviewed. A 15-year-old boy, who developed progressive ankle and hip joint pain and enlargement with spine involvement, was diagnosed with PPRD. The erythrocyte sedimentation rate and C-reactive protein (CRP) were in the normal range; rheumatoid factor and anti-cyclic citrullinated peptide antibody (ACPA) were all negative. Human leukocyte antigen 27 (HLA-B27) was also negative. Cene study discovered two kinds of mutations in CCN6 gene: c. 802T>C and c.624dup. Radiographic studies revealed spine platyspondyly and shaped beaked, osteoporosis, and bilateral symmetric bony enlargements of the interphalangeal joints. Hip shows bilateral acetabulum and femoral head bone marrow edema, which revealed hip arthritis. Gene detection, laboratory examination, and typical radiographic features are helpful for the diagnosis of PPRD. This is the first report of c. 802T>C and c.624dup mutations in patients with PPRD in our country.

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Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy

Cited by 3 publications

References 20 publications

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

Orthopedic concerns of a child with short stature

Progressive pseudorheumatoid dysplasia involving a novel CCN6 mutation: a case report

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