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http://dx.doi.org/10.4103/0972-2327.132630 | 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 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.
Cureus
December 2024
Department of Osteopathic Manipulative Medicine, Liberty University College of Osteopathic Medicine, Lynchburg, USA.
An 88-year-old male with a history of cervical spondylosis (status post laminectomy of C2-C3 and laminoplasty of C4-C5), chronic congestive heart failure (CHF), pulmonary embolism, and lumbar spinal stenosis presented to an outpatient sports medicine clinic with neck pain following a fall five days prior due to loss of balance. He reported pain on the left side worsened by movement and accompanied by neck "clicking." A physical exam showed severe limitation in cervical spine extension limited by pain and loss of lordotic curve and a neurologic exam demonstrated weakness in the left leg secondary to a previous back surgery.
View Article and Find Full Text PDFFront Neurol
December 2024
Neuromuscular Imaging Research Lab, The Kolling Institute, North Sydney Local Health District, St Leonards, NSW, Australia.
Individuals with joint hypermobility and the Ehlers-Danlos Syndromes (EDS) are disproportionately affected by neuraxial dysfunction and Central Nervous System (CNS) disorders: such as Spontaneous Intracranial Hypotension (SIH) due to spinal cerebrospinal fluid (CSF) leaks, Upper Cervical Instability (UCI; including craniocervical or atlantoaxial instability (CCI/AAI)), Occult Tethered Cord Syndrome (TCS), Chiari Malformation (CM) and Idiopathic Intracranial Hypertension (IIH). The neuraxis comprises the parts of the nervous system (brain, nerves, spinal cord) along the craniospinal axis of the body. Neuraxial tissue includes all tissue structures that comprise, support, sheath, and connect along the neuraxis and peripheral nerves.
View Article and Find Full Text PDFClin Neurol Neurosurg
December 2024
Clinic of Radiology, Bahçeşehir University Göztepe Medical Park Hospital, Istanbul, Turkey.
Introduction: Os odontoideum (OO) is a rare anatomic variant of the axis characterized by the separation of a part of the axis. It may cause cervical instability, atlantoaxial dislocation, myelopathy, or permanent paralysis. We present an extremely rare case of an OO with posterior atlantoaxial dislocation in a child.
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