Results 1 to 10 of about 5,012 (166)

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

Three-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide [PDF]

Genetics in Medicine Open
Purpose: Achondroplasia is the most common form of disproportionate short-stature skeletal dysplasia. Constitutively activated FGFR3 signaling disrupts endochondral ossification, affecting long bone growth, as well as the craniofacial skeleton and skull ...
Hanne Hoskens, J.David Aponte, Cassidy Da Silva, Trevor Coward, Benedikt Hallgrímsson, Melita Irving   +5 more
doaj   +2 more sources

Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study [PDF]

Orphanet Journal of Rare Diseases
Introduction Achondroplasia is the most common skeletal dysplasia associated with disproportionately short stature and is associated with high disease burden and unmet medical need.
Pranav Abraham, Gandarvaka Miles, Natalia Petruski-Ivleva, Kalyani Hawaldar, Cemre Robinson, Kenneth I. Berger   +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

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

Therapeutic Advances in Musculoskeletal Disease, 2022
Background: Achondroplasia is the most common short-limbed skeletal dysplasia resulting from gain-of-function pathogenic variants in fibroblast growth factor receptor 3 ( FGFR3 ) gene, a negative regulator of endochondral bone formation.
Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong, Melita Irving   +25 more
doaj   +2 more sources

Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale [PDF]

Diagnostics
Background/Objectives: Achondroplasia is the most common skeletal dysplasia, affecting 1 in 25,000 births. Limited research exists on the assessment of functional independence using standardized tools in children and adolescents with achondroplasia.
Chung-Lin Lee, Hung-Hsiang Fang, Chih-Kuang Chuang, Dau-Ming Niu, Ju-Li Lin, Mei-Chyn Chao, Yen-Yin Chou, Pao Chin Chiu, Chia-Chi Hsu, Tzu-Hung Chu, Yin-Hsiu Chien, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin   +16 more
doaj   +2 more sources

Spinal Stenosis in Achondroplasia – A Case Report and Review of the Literature [PDF]

Journal of Orthopaedic Case Reports
Introduction: Achondroplasia, the most common skeletal dysplasia, often presents with congenital lumbar spinal stenosis. In skeletally mature adults without instability, the choice between decompression alone and decompression with fusion remains debated.
Dileepan Chakrawarthi, D Vijayakumar
doaj   +2 more sources

Achondroplasia Berulang pada Orangtua dengan Perawakan Normal: Laporan Kasus

Obgynia, 2023
Achondroplasia adalah penyebab paling umum dari perawakan pendek yang tidak proporsional. Individu yang terkena memiliki pemendekan rhizomelia pada anggota badan, makrosefali, dan fitur wajah yang khas.
Fatima Zahra, Adhi Pribadi
doaj   +1 more source

Left Main Coronary Artery Bifurcation Coronary Intervention in a Patient with Achondroplasia with Multivessel Coronary Artery Disease

Indian Journal of Medical Specialities, 2022
We report a rare case of critical coronary artery disease in a 62-year-old male with achondroplasia. There is a paucity of case reports of association of achondroplasia with coronary artery disease.
Debasish Das, Anindya Banerjee, Abhinav Kumar, Tutan Das, Shashikant Singh, Jaideep Das Gupta, Manaranjan Dixit   +6 more
doaj   +1 more source

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

Orphanet Journal of Rare Diseases, 2022
Background Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary team expert in the condition The ...
Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike   +14 more
doaj   +1 more source