Results 1 to 10 of about 10,063 (203)

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

Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum [PDF]

Orphanet Journal of Rare Diseases
Due to the craniofacial anatomy of people with achondroplasia, sleep-disordered breathing (SDB) occurs more frequently than in the average stature population.
Brigitte Fauroux, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Mieke Boon, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Melita Irving, Philip Kunkel, Núria Madureira, Mohamad Maghnie, Josef Milerad, Klaus Mohnike, Geert Mortier, Lino Nobili, Zagorka Pejin, Marco Sessa, Sérgio B. Sousa   +18 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

Coping and quality of life of parents of children with achondroplasia—a narrative review [PDF]

Frontiers in Medicine
BackgroundCaring for individuals with a chronic disease imposes a substantial burden on parents, significantly impacting their quality of life. For parents of children with achondroplasia, caregiving has notable implications for coping mechanisms and ...
Adekunle Adedeji, Adekunle Adedeji, Stefanie Witt, Stefanie Witt, Florian Innig, Inês Alves, Chiara Provasi, Marco Sessa, Klaus Mohnike, Klaus Mohnike, Julia Quitmann, Julia Quitmann   +11 more
doaj   +2 more sources

Achondroplasia

Bristol medico-chirurgical journal (1883)
Citation: 'achondroplasia' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10327 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms. Requests for commercial
Chamarthi VS, Chamarthi S, Karsonovich T.   +2 more
europepmc   +4 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