Results 81 to 90 of about 135,318 (359)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
Global Spine Journal, 2013 The ideal treatment for unstable thoracolumbar fractures remains controversial with posterior reduction and stabilization, anterior reduction and stabilization, combined posterior and anterior reduction and stabilization, and even nonoperative management
Jean A. Ouellet MD, FRCSC +9 more
doaj +1 more source
Graduation of the Learning Curve from Small to Smaller: Evolution of Tubular Retractors from 18 mm to 14 mm in Management of Lumbar Disc Herniation [PDF]
Journal of Minimally Invasive Spine Surgery and Technique, 2019 Objective While the utility of 16 mm and 18 mm diameter tubular-retractors in the management of prolapsed intervertebral-disc is well-established, there is no published literature on the use of 14 mm tube.
Arvind Gopalrao Kulkarni +2 more
doaj +1 more source
Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
Cervical scoliosis in the Klippel-Feil patient
, 2010 Summary: A multicenter database was used to compare patients undergoing primary surgery for AIS to those having revision surgery. The incidence of complications and were comparable between groups. Those with revision surgery had had similar SRS scores to
Jean Herman +9 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
Orthopaedic Journal of Sports Medicine, 2018 Background: Recurrent patellar instability is commonly treated with medial patellofemoral ligament reconstruction (MPFLR), and the use of allograft in anterior cruciate ligament reconstructions has demonstrated inferior outcomes.
Nikhil Kumar BS +4 more
doaj +1 more source
Scoliosis secondary to an unusual rib lesion. [PDF]
, 2012 Tumours of the chest wall are uncommon and are usually malignant. A bone haemangioma is a rare benign vascular neoplasm, which more commonly occurs in middle-aged patients.
Dudeney, S +4 more
core
BMC Musculoskeletal Disorders, 2019 BackgroundPatients with Duchenne muscular dystrophy (DMD) often develop scoliosis that progresses rapidly after loss of ambulation. Management of scoliosis is crucial because it affects both life expectancy and quality of life of patients with DMD ...
Young-Ah Choi +2 more
semanticscholar +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source