Results 11 to 20 of about 5,366 (132)

Altered body composition in children and adolescents with achondroplasia [PDF]

Frontiers in Nutrition
IntroductionAchondroplasia is characterized by disproportionate short stature, yet little is known about how growth patterns and body composition differ from peers during childhood and adolescence.
Javier Gómez-Ambrosi, Javier Gómez-Ambrosi, Javier Gómez-Ambrosi, Javier Gómez-Ambrosi, Isabel María Vegas-Aguilar, Isabel María Vegas-Aguilar, María del Mar Amaya-Campos, María del Mar Amaya-Campos, Patricia Yárnoz-Esquíroz, Patricia Yárnoz-Esquíroz, Patricia Yárnoz-Esquíroz, Rocío Fernandez-Jiménez, Rocío Fernandez-Jiménez, Rocío Fernandez-Jiménez, María García-Olivares, María García-Olivares, María García-Olivares, Camilo Silva, Camilo Silva, Camilo Silva, Camilo Silva, José Manuel García-Almeida, José Manuel García-Almeida, José Manuel García-Almeida, José Manuel García-Almeida, José Manuel García-Almeida, Gema Frühbeck, Gema Frühbeck, Gema Frühbeck, Gema Frühbeck, Gema Frühbeck   +30 more
doaj   +2 more sources

Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons. [PDF]

Adv Genet (Hoboken)
This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Jones C, Jayasuriya AC.
europepmc   +2 more sources

Distal Humerus Fracture in a 28-Year-Old Male with Achondroplasia Treated with Reconstruction Plate: Case Report and Review of Literature [PDF]

Journal of Orthopaedic Case Reports
Introduction: Achondroplasia, the most common skeletal dysplasia, presents unique challenges in fracture management due to rhizomelic shortening and abnormal bone geometry.
Anand Raj Rajendrababu, Arun Nirmal, Harikumar Kurumalikkal Sukumaran, Anjali Sudha Vijay   +3 more
doaj   +2 more sources

Change‐of‐function fibroblast growth factor receptor 3 mutations causing skeletal dysplasias [PDF]

J Cell Commun Signal
We show that the ligands FGF1 and FGF2 elicit differential fibroblast growth factor receptor 3 (FGFR3) signaling responses and that the FGFR3 G380R and A391E mutations reshape these signaling outputs. Thus, pathogenic FGFR3 mutations found in skeletal dysplasia do not simply enhance signaling strength and should be reclassified from “gain‐of‐function ...
Roy T, Feketova Z, Liu J, Krejci P, Hristova K.   +4 more
europepmc   +2 more sources

An overview of the International Consensus Statement on achondroplasia [PDF]

Orphanet Journal of Rare Diseases
Achondroplasia is the most common form of short-limbed short stature of genetic origin. Most people with achondroplasia live fully independent, productive, and socially engaged lives.
Inês Alves, Svein Otto Fredwall, Michael Hughes, Penelope J. Ireland, Morrys C. Kaisermann, Ravi Savarirayan   +5 more
doaj   +2 more sources

Gait and posturographic parameters of children with achondroplasia – a long-term pilot study [PDF]

BMC Musculoskeletal Disorders
Walking and maintaining balance are essential for participating in daily life. For children with achondroplasia, reaching these milestones is with a delay and during growth, challenges persist for those skills.
Mareike Hergenröther, Katja Palm, Klaus Mohnike, Kerstin Witte   +3 more
doaj   +2 more sources

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

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

Diagnosis of Achondroplasia at Birth: A Case Report

Journal of Nepal Medical Association, 2020
Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead
Suzit Bhusal, Uttara Gautam, Rajan Phuyal, Robin Choudhary, Sunil Raja Manandhar, Aliska Niroula   +5 more
doaj   +1 more source