Results 51 to 60 of about 468,556 (194)

Torticollis in Connection with Spine Phenotype

open access: yesDiagnostics, 2022
Purpose: Torticollis is not of uncommon occurrence in orthopaedic departments. Various theories and studies concerning the pathogenesis of the deformity have been suggested. We aimed to highlight and discuss the underlying cervical and spine malformation
Ali Al Kaissi   +7 more
doaj   +1 more source

A Novel De Novo MTM1 Insertion Frameshift Variant Causes X‐Linked Myotubular Myopathy in a Chinese Female

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
A 24‐year‐old heterozygous woman presented with lifelong hypotonia and slowly progressive, asymmetric axial and limb‐girdle weakness with facial/ocular involvement and restrictive ventilatory impairment (FVC 53.12% predicted). Multimodal evaluation (EMG, muscle MRI, and whole‐exome sequencing [WES]) identified a de novo MTM1 frameshift variant ...
Lijun Chen, Yingxiao Bao, Gonglu Liu
wiley   +1 more source

A Case of Primary Intramedullary Infantile Fibrosarcoma With an RBPMS::NTRK3 Fusion and Response to Larotrectinib

open access: yesNeuropathology and Applied Neurobiology, Volume 52, Issue 5, October 2026.
We report a case of primary intramedullary infantile fibrosarcoma (IFS) in a 4‐week‐old infant with rapidly progressive cervical myelopathy. Histology showed a spindle cell tumour with diffuse S100 and pan‐TRK expression. RNA sequencing identified an RBPMS::NTRK3 fusion.
Mégane Le Quang   +8 more
wiley   +1 more source

A randomized controlled study on the efficiency of soft tissue mobilization in babies with congenital muscular torticollis

open access: yes, 2018
BACKROUND: Soft tissue mobilization techniques (STM) are used in clinical practice in treatment of congenital muscular torticollis(CMT).
Fatma Uygur   +3 more
core   +1 more source

Connective tissue and genetics in the pathogenesis of rectal prolapse: A scoping review

open access: yesColorectal Disease, Volume 28, Issue 9, September 2026.
Abstract Aim Rectal prolapse can occur in individuals who lack the established risk factors (constipation, obstetric trauma and advanced age). A recognised association with hereditary connective tissue diseases may indicate a role for variants in connective tissue‐related genes in the pathogenesis of the disease.
Matthew Davenport   +9 more
wiley   +1 more source

Is craniofacial asymmetry progressive in untreated congenital muscular torticollis?

open access: yes, 2013
BACKGROUND: Although craniofacial asymmetry is frequently involved in patients with congenital muscular torticollis, it has not been evaluated appropriately.
Han, DH   +6 more
core   +1 more source

Congenital Muscular Torticollis: A Case Report

open access: yesPhilippine Journal of Otolaryngology Head and Neck Surgery, 2019
Objective: To discuss a case of congenital muscular torticollis and its presentation, pathophysiology and management.  Methods:                     Design: Case Report                     Setting: Tertiary Private Hospital                    
Leila Marie Villanueva
doaj  

Adverse Drug Reaction Study of Botulinum Toxin‐A in the Real World

open access: yesJournal of Cosmetic Dermatology, Volume 25, Issue 6, June 2026.
ABSTRACT Background Despite the increasing use of botulinum toxin type A (BoNT‐A) in aesthetic and therapeutic applications, its real‐world adverse drug reaction (ADR) profile remains incompletely characterized. Current evidence relies largely on small‐scale clinical observations rather than large, systematic analyses.
Jiaxu Gu   +9 more
wiley   +1 more source

CONGENITAL TORTICOLLIS

open access: yes, 1950
1. One hundred cases of torticollis and 117 cases of sternomastoid tumour have been reviewed. 2. Congenital torticollis can be sub-divided into two groups: postural and muscular. 3.
K. F. Hulbert
core   +1 more source

Surgical correction of a double congenital hernia in a veal calf

open access: yesVeterinary Record Case Reports, Volume 14, Issue 2, May 2026.
Abstract This clinical case report describes the rare occurrence and successful surgical management of two simultaneous congenital hernias, umbilical and perineal, in a crossbred veal calf. At 5 days of age, the animal, weighing approximately 40 kg, showed visible swelling in the umbilical and perineal regions together with a congenital tail ...
Andrea Spadaro   +4 more
wiley   +1 more source

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