Results 51 to 60 of about 83,265 (294)

Limbus vertebrae of the cervical spine: A case report

open access: yesClinical Case Reports, 2022
Limbus vertebra is a common radiological finding in an adult, especially in the mid‐lumbar region. However it is less commonly seen in the mid cervical region.
Eleni Pappa, Ioannis Chatzikomninos
doaj   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle   +26 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan   +4 more
wiley   +1 more source

Neuromuscular scoliosis

open access: yesOrthopaedics & Traumatology: Surgery & Research, 2013
Scoliosis is a common deformity in many types of neuromuscular disease. Severe spinal curvature can cause difficulty in sitting. Conservative and surgical treatment of neuromuscular scoliosis differs from idiopathic scoliosis, being more complex and with a higher complications rate.
Vialle, R.   +2 more
openaire   +4 more sources

Three-dimensional (3D) ultrasound imaging for quantitative assessment of frontal cobb angles in patients with idiopathic scoliosis – a systematic review and meta-analysis

open access: yesBMC Musculoskeletal Disorders
Background Measurement of Cobb angle in the frontal plane from radiographs is the gold standard of quantifying spinal deformity in adolescent idiopathic scoliosis (AIS).
Cheuk-Kin Kwan   +11 more
doaj   +1 more source

Misdiagnosing absent pedicle of cervical spine in the acute trauma setting

open access: yesOrthopedic Reviews, 2015
Congenital absence of cervical spine pedicle can be easily misdiagnosed as facet dislocation on plain radiographs especially in the acute trauma setting.
Fahad H. Abduljabbar   +3 more
doaj   +1 more source

Does Minimally Invasive Spine Surgery Minimize Surgical Site Infections? [PDF]

open access: yesAsian Spine Journal, 2016
Study DesignRetrospective review of prospectively collected data.PurposeTo evaluate the incidence of surgical site infections (SSIs) in minimally invasive spine surgery (MISS) in a cohort of patients and compare with available historical data on SSI in ...
Arvind Gopalrao Kulkarni   +2 more
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

How to Incorporate Minimally Invasive Spine Surgery in Practice? [PDF]

open access: yesJournal of Minimally Invasive Spine Surgery and Technique, 2018
The primary aim of any spine surgeon is continual development of one’s techniques and thus achieve better clinical and functional patient outcomes. In a world where even the ‘gold standard’ conventional open surgery is looked upon with apprehension ...
Arvind Kulkarni, Sameer Ruparel
doaj   +1 more source

Thoracolumbar Scoliosis in Pediatric Patients With Loeys-Dietz Syndrome: A Case Series [PDF]

open access: diamond, 2023
Melissa A. LoPresti   +10 more
openalex   +1 more source

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