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| http://dx.doi.org/10.1111/os.12142 | DOI Listing |
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-related disorder in 87 adults: Natural history and self-sustainability.
Genet Med Open
July 2024
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.
Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.
Increased kinematic changes in ascending compared with descending biplanar cut in open wedge high tibial osteotomy-a multibody simulation.
Knee Surg Relat Res
November 2024
Department of Orthopaedics and Trauma Surgery, Musculoskeletal University Center Munich (MUM), University Hospital, LMU, Munich, Germany.
Background: The ascending or descending extended biplanar tibial cut in open wedge high tibial osteotomy (owHTO) not only changes the lower limb anatomy in the coronal plane but also leads to different three-dimensional (3D) changes in the patellofemoral joint. This study aimed to perform a comprehensive analysis of the dynamic biomechanical changes in the knee joint using a multibody simulation model.
Methods: Thirteen 3D computer models derived from lower limb computer tomography scans were used for owHTO.
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.
Genes Genomics
October 2024
Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
Background: Congenital anomalies of the knee are a spectrum of rare disorders with wide clinical and genetic variability, which are mainly due to the complex processes underlying knee development. Despite progresses in understanding pathomechanisms and associated genes, many patients remain undiagnosed.
Objective: To uncover the genetic bases of a congenital patellar dislocation affecting multiple family members with variable severity.
Dynamic Ultrasound Assessment for Diagnosis of Pseudo-Patellar Clunk Syndrome: A Case Report.
J Clin Ultrasound
October 2024
Orthopedic Specialists of New Jersey, Paramus, New Jersey, USA.
Patellar clunk syndrome (PCS) is a complication of total knee arthroplasty (TKA) leading to audible and palpable clunking of the patellofemoral joint as the knee is extended out of deep flexion. While historically a clinical diagnosis, some cases require further workup and imaging. Here, we demonstrated the utility of dynamic ultrasound assessment for a patient with clunking after TKA and identified a variant of PCS that is not well described in the literature.
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