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http://dx.doi.org/10.3899/jrheum.130532 | DOI Listing |
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 PDFNeurosurg Rev
January 2025
Department of Orthopaedics, Peking University Third Hospital, Beijing, China.
The combination of congenital C1 occipitalization and C2-3 non-segmentation (i.e. "sandwich fusion") results in early development of atlantoaxial dislocation (AAD).
View Article and Find Full Text PDFNeurospine
December 2024
Department of Orthopedic Surgery, Kobe Rosai Hospital, Kobe, Japan.
Objective: To identify factors associated with the absence of cervical spine instability in patients with rheumatoid arthritis (RA).
Methods: Cervical spine instability was defined as the presence of at least one of the following: atlantoaxial subluxation, vertical subluxation of the axis, or subaxial subluxation. In 2001-2002, 634 enrolled outpatients with "classical" or "definite" RA underwent a radiographic cervical spine checkup.
Rev Bras Ortop (Sao Paulo)
November 2024
Serviço de Cirurgia de Coluna, Instituto Nacional de Rehabilitación, Cidade do México, México.
Atalanto-occipital dislocations with type II fractures of the odontoid process are rare, reporting 7 cases for every 784 upper cervical spine injuries, an incidence of <0.3% and are related to a high rate of morbidity and mortality. Regarding C2 fractures, the most common are in the odontoid process, representing 7%, classified by Anderson and D'Alonso according to their level, with the highest rate of pseudarthrosis in zone II of up to 85% are caused mainly by car accidents.
View Article and Find Full Text PDFCureus
November 2024
Neurosurgery, King Hamad University Hospital, Busaiteen, BHR.
This report presents the case of a seven-year-old child diagnosed with Grisel's syndrome following a craniotomy for a cystic brain lesion. The patient initially presented with persistent, progressively worsening headaches that coincided with neurological symptoms. Imaging revealed a massive cystic lesion causing a significant compression and midline shift.
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