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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

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

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

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

The first European consensus on principles of management for achondroplasia

Orphanet Journal of Rare Diseases, 2021
Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties
Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike   +12 more
doaj   +1 more source

Interpretation on Key Points of International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia [PDF]

Zhongguo quanke yixue, 2023
Achondroplasia is a rare disease leading to growth and developmental disorders in children, mainly manifested as skeletal dysplasia and disproportionate short stature, which can lead to respiratory abnormalities, hearing loss, spinal involvement, limb ...
SUN Wenwen, LIU Jing, KONG Dexian, ZHANG Zhimin, MA Huijuan
doaj   +1 more source

Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures

Orphanet Journal of Rare Diseases, 2023
Background Achondroplasia is an autosomal dominant disorder mainly affecting bony growth, typically resulting in markedly short stature. From a neurosurgical viewpoint, patients sometimes develop spinal cord compression at the narrowed foramen magnum and
Jong Seok Lee, Youngbo Shim, Tae-Joon Cho, Seung-Ki Kim, Jung Min Ko, Ji Hoon Phi   +5 more
doaj   +1 more source