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| http://dx.doi.org/10.11604/pamj.2014.18.325.5216 | DOI Listing |
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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 PDFThe association of congenital diaphragmatic hernia with scoliosis.
Spine Deform
January 2025
Great North Children's Hospital, Newcastle Upon Tyne, UK.
Purpose: To determine the prevalence of scoliosis in patients who have undergone surgical repair of CDH and attempt to assess the aetiology of scoliosis in affected cases.
Methods: A prospectively collected database of patients with CDH treated in a single centre between 1997 and 2023 was reviewed. Cases with adequate records who continued to reside locally having survived beyond age 2 and > 2 years following CDH repair were included.
[Diagnostic and therapeutic approach to unilateral posterior vertical insufficiency].
Orthod Fr
January 2025
Nantes Université, Université Angers, CHU Nantes, INSERM, CNRS, CRCI2NA, 44000 Nantes, France
Introduction: The aim of this article is to present the diagnostic and therapeutic approach to unilateral posterior vertical insufficiency.
Material And Methods: The authors describe the management protocol.
Results: Posterior vertical insufficiency (PVI) manifests clinically as obliquity of the maxillo-mandibular occlusal plane and bicommissural line, and deviation of the chin.
Surgical management of single-level thoracolumbar vertebral body segmentation and formation failure causing progressive thoracolumbar myelopathy in three adult large-breed dogs.
Front Vet Sci
January 2025
Lumbry Park Veterinary Specialists, Hampshire, United Kingdom.
Objective: This study aimed to evaluate the medium-term outcome following spinal cord decompression and instrumented fixation of single-level congenital thoracolumbar vertebral malformations, characterized by combined failures of segmentation and formation, causing thoracolumbar myelopathy in three large-breed dogs.
Study Design: This was a retrospective clinical study.
Animals: The animals involved in the study were three large-breed dogs.
Current practices in MRI screening in early onset scoliosis.
Spine Deform
January 2025
Case Western Reserve University School of Medicine, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
Purpose: Early onset scoliosis (EOS) has traditionally been an indication for MRI because of its association with neural axis abnormalities (NAAs). Because these abnormalities are often clinically silent and concerns regarding sedation in young children are growing, routine MRI for EOS is debated. This study investigates the current practices of EOS MRI screening among surgeons in the Pediatric Spine Study Group (PSSG).
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