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Phenotypic Presentation of Children with Joint Hypermobility: Preclinical Signs.
Children (Basel)
January 2025
Genetics and Molecular Biology Research Unit, Department of Molecular Biology, Medical School of São José do Rio Preto (FAMERP), Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto 15090-000, SP, Brazil.
Introduction: Joint hypermobility (JH) is mobility beyond the normal range of motion. JH can be an isolated finding or a characteristic of a syndrome. Characteristics related to the sitting position with atypical body positions, such as sitting in splits (S), with the foot on the head (F), in W (W), in a concave shape (C), episodes of dislocations, and subluxations, suggest impacts on body mechanics since childhood, with damage to the conformation of the joints.
View Article and Find Full Text PDFCerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case.
Clin Dysmorphol
December 2024
Department of Pediatric Genetics.
Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other.
View Article and Find Full Text PDFInfluence of Conservative or Invasive Treatments on the Occurrence of Sequelae in Permanent Successors After Injuries in the Support Tissues of Incisors Deciduous Teeth: A Cohort Study.
Dent Traumatol
January 2025
Departament of Pediatric Dentistry and Orthodontics, School of Dentistry, Universidade Federal do Rio de Janeiro-UFRJ, Rio de Janeiro, Brazil.
Objective: To assess the influence of conservative or invasive treatments on the appearance of sequelae in permanent successor teeth (SPT) after injuries in the support tissues of anterior deciduous teeth (ISTDT).
Methods: This cohort study accompanied 52 children with ISTDT up to the complete eruption of the permanent successor to investigate the presence or not of SPT. Trauma was clinically evaluated according to the International Association for Dental Traumatology.
Do perilunate dislocations and fracture-dislocations result in different radiological outcomes following wrist alignment reconstruction? A single-center retrospective study including 51 patients with perilunate injuries.
Arch Orthop Trauma Surg
January 2025
Department of Hand, Plastic, Reconstructive and Burn Surgery, BG Unfallklinik Tuebingen, Eberhard Karls University Tuebingen, Tübingen, Germany.
Introduction: Perilunate dislocations (PLD) and perilunate fracture-dislocations (PLFD) are high-energy wrist injuries often linked to significant post-traumatic osteoarthritis. This study aims to determine whether PLD and PLFD yield different radiological outcomes following surgical treatment while identifying prognostic factors for worse outcomes.
Materials And Methods: We retrospectively analyzed 51 patients treated for perilunate injuries between 2000 and 2022.
Acromioclavicular Luxation with Fracture of the Lateral End of the Clavicle: Case Report.
Rev Bras Ortop (Sao Paulo)
November 2024
Hospital Márcio Cunha, Fundação São Francisco Xavier, Ipatinga, MG, Brasil.
The present case report is an observational study with a literature review. This case is significant because the injury is rare regarding location and clinical manifestation. A middle-aged male patient sustained a fracture at the acromial end of the clavicle with lateral fragment dislocation after falling from a bicycle.
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