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Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
Proc Natl Acad Sci U S A
January 2025
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of is associated with a wide spectrum of skeletal disorders, including campomelic dysplasia, acampomelic campomelic dysplasia, and scoliosis. Yet how variants contribute to the spectrum of axial skeletal disorders is not well understood.
View Article and Find Full Text PDFDiagnostic Challenge of Phenotypic Variability in COL2A1-Related Disorders: Four Novel Variants and Expanding the Clinical Spectrum.
J Clin Res Pediatr Endocrinol
January 2025
Department of Pediatric Endocrinology, Umraniye Training and Research Hospital, Istanbul, Türkiye.
Objective: Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.
View Article and Find Full Text PDFDelayed diagnosis of spinal osteoblastoma presenting with radicular pain and scoliosis: A case report.
Int J Surg Case Rep
January 2025
University of Tunis El Manar, Faculty of Medicine of Tunis, 1007, Tunisia; Department of Orthopedic Surgery, Hospital Mongi Slim La Marsa, Tunisia.
Introduction And Importance: Osteoblastoma is a rare benign bone tumor, accounting for 1 % of primary bone tumors, often affecting the spine and sacrum. Accurate diagnosis is essential for appropriate treatment and prognosis.
Case Presentation: A 19-year-old male presented with two years of persistent nocturnal radicular and low back pain unresponsive to anti-inflammatory medications.
An Inter- and Intra-Rater Agreement Assessment of Two Novel Classification Systems for Coronal Imbalance in Adult Scoliosis and Spine Deformity.
Orthop Surg
January 2025
Department of Spine Center, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Objective: Coronal malalignment is a common feature of adult spinal deformity, and accurate classification is essential for diagnosis and treatment planning. However, variations in interpretation among clinicians can impact classification consistency. By assessing the reliability and applicability of these systems across different medical experts, this study seeks to establish a standardized approach to enhance clinical outcomes.
View Article and Find Full Text PDFScoliosis in adult Type 1 Chiari malformation with syringomyelia patients: from pathogenesis to treatment.
Am J Transl Res
December 2024
Department of Orthopaedics, Beilun District People's Hospital, Beilun Branch of The First Affiliated Hospital, Zhejiang University Ningbo, Zhejiang, China.
The pathogenesis of type I Chiari malformation (CIM) is complex and remains unclear. The theory of posterior cranial fossa incompatibility has gained widespread acceptance in recent years. In the patients with CIM combined with syringomyelia, scoliosis is a common occurrence, with severe cases often leading to complications that necessitate surgical intervention.
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