Results 21 to 30 of about 6,534 (202)

Total Joint Arthroplasty in Patients With Achondroplasia: Comparison of 90-Day Adverse Events and 5-Year Implant Survival

Arthroplasty Today, 2021
Background: Achondroplasia is the most common skeletal dysplasia, and total joint arthroplasty of the hip and/or knee in this patient population may present unique challenges. Methods: All patients undergoing primary total hip or total knee arthroplasty (
Harold G. Moore, BS, Christopher A. Schneble, MD, Joseph B. Kahan, MD, MPH, Gregory G. Polkowski, MD, MSc, Lee E. Rubin, MD, Jonathan N. Grauer, MD   +5 more
doaj   +1 more source

Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report

BMC Medical Genomics, 2023
Background Achondroplasia is a congenital skeletal system malformation caused by missense variant of FGFR3 gene with an incidence of 1 per 20,000–30,000 newborns, which is an autosomal dominant inheritance disease.
Shujun Chen, Hongmei Dong, Yong Luo, Yingpin Zhang, Pan Li   +4 more
doaj   +1 more source

The Norwegian Adult Achondroplasia Study: A population-based study of medical complications, physical functioning, cardiovascular risk factors, and body composition in adults with achondroplasia

, 2022
While medical complications are well described in children with achondroplasia, our scoping review found few studies concerning adults. The Norwegian Adult Achondroplasia Study included 50 Norwegian adults, aged 16–87 years, with genetically confirmed ...
Fredwall, Svein Otto
core   +1 more source

Cardiovascular risk factors and body composition in adults with achondroplasia [PDF]

, 2021
Purpose An increased cardiovascular mortality has been reported in achondroplasia. This population-based, case-control study investigated cardiovascular risk factors and body composition in Norwegian adults with achondroplasia.
Ravi Savarirayan, Manum, Grethe,, Serena Tonstad, Lidal, Ingeborg Beate,, Eggesbo, Heidi Beate,, Olof Dahlqvist Leinhard, Harald Weedon-Fekjær, Svein O. Fredwall, Weedon-Fekjaer, Harald,, Dahlqvist Leinhard, Olof,, Lisa Kjønigsen, Grethe Månum, Fredwall, Svein O.,, Ingeborg Beate Lidal, Tonstad, Serena,, Jennifer Linge, Kjonigsen, Lisa,, Linge, Jennifer,, Savarirayan, Ravi,, Heidi Beate Eggesbø   +19 more
core   +2 more sources

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

BMC Pediatrics, 2022
Background Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression ...
Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, Paula Frassinetti Vasconcelos de Medeiros, Mariana del Pino, Débora Bertola, Charles Marques Lourenço, Denise Pontes Cavalcanti, Têmis Maria Félix, Antonio Rosa-Bellas, Norma Teresa Rossi, Fanny Cortes, Flávia Abreu, Nicolette Cavalcanti, Maria Cecilia Hervias Ruz, Wagner Baratela   +17 more
doaj   +1 more source

Gait in children with achondroplasia – a cross-sectional study on joint kinematics and kinetics

BMC Musculoskeletal Disorders, 2022
Background Children with achondroplasia have extreme short stature due to short limbs, as well as several other clinical features that may affect their gait.
Eva W. Broström, Lotte Antonissen, Johan von Heideken, Anna-Clara Esbjörnsson, Lars Hagenäs, Josefine E. Naili   +5 more
doaj   +1 more source

Orofacial manifestations of achondroplasia [PDF]

, 2012
Achondroplasia (Online Mendelian Inheritance in Man [OMIM] 100800), is considered as a form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening.
Tanwar, Renu, Kaushik, Atul, Kumar, Munish, Vinod, V.C., Rohilla, Smriti   +4 more
core   +1 more source

Real-world evidence in achondroplasia: considerations for a standardized data set

Orphanet Journal of Rare Diseases, 2023
Background Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital assets, and ...
Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving   +24 more
doaj   +1 more source

Complex Primary Total Knee Arthroplasty in a Patient with Achondroplasia, Osteoarthritis, and Severe Coronal Instability

Arthroplasty Today, 2021
Genu varum in patients with achondroplasia is common and is often exacerbated by the associated generalized ligamentous laxity. Despite this, development of knee osteoarthritis is rare. There are only a few previously published case reports of total knee
Ryan Stancil, MD, MPH, Michael Goldberg, MD, Maryse Bouchard, MD, MSc, Adam Sassoon, MD, MS   +3 more
doaj   +1 more source

Postural control in adults with Achondroplasia

, 2023
Achondroplasia is a genetic rare condition characterized by shorter stature and disproportionate upper and lower limbs length. There is limited evidence on postural control in adults with achondroplasia and on how limb lengthening interacts with body ...
Maria António Castro, Sofia Tavares, Orlando Fernandes, Inês Alves   +3 more
core   +1 more source