Results 21 to 30 of about 2,546 (143)

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

Orphanet Journal of Rare Diseases, 2022
Background Achondroplasia is associated with disproportionate short stature and significant and potentially severe medical complications. Vosoritide is the first medicine to treat the underlying cause of achondroplasia and data from phase 3 and phase 2 ...
Ravi Savarirayan, Wagner Baratela, Thomas Butt, Valérie Cormier-Daire, Melita Irving, Bradley S. Miller, Klaus Mohnike, Keiichi Ozono, Ron Rosenfeld, Angelo Selicorni, Dominic Thompson, Klane K. White, Michael Wright, Svein O. Fredwall   +13 more
doaj   +1 more source

Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients

Orphanet Journal of Rare Diseases, 2023
Background Achondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea.
Anne Morice, Maxime Taverne, Sophie Eché, Lucie Griffon, Brigitte Fauroux, Nicolas Leboulanger, Vincent Couloigner, Geneviève Baujat, Valérie Cormier-Daire, Arnaud Picard, Laurence Legeai-Mallet, Natacha Kadlub, Roman Hossein Khonsari   +12 more
doaj   +1 more source

Longitudinal Imaging of the Skull Base Synchondroses Demonstrate Prevention of a Premature Ossification After Recifercept Treatment in Mouse Model of Achondroplasia

JBMR Plus, 2022
Achondroplasia is the most common form of short‐limb dwarfism. In this disorder, endochondral ossification is impaired due to gain‐of‐function mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene.
Guylene Rignol, Stephanie Garcia, Florence Authier, Kaamula Smith, Lionel Tosello, Raphael Marsault, Pierre Dellugat, Diogo Goncalves, Marlene Brouillard, Jeffrey Stavenhagen, Luca Santarelli, Christian Czech, Elvire Gouze   +12 more
doaj   +1 more source

Screening and surgery for foramen magnum stenosis in children with achondroplasia: a large, national database analysis [PDF]

Journal of Neurosurgery: Pediatrics, 2019
OBJECTIVEThe goal of this study was to determine the rates of screening and surgery for foramen magnum stenosis in children with achondroplasia in a large, privately insured healthcare network.METHODSRates of screening and surgery for foramen magnum stenosis in children with achondroplasia were determined using de-identified insurance claims data from ...
Jeffrey L, Nadel, D Andrew, Wilkinson, Hugh J L, Garton, Karin M, Muraszko, Cormac O, Maher   +4 more
openaire   +2 more sources

Pneumomediastinum, Subcutaneous Emphysema, and Tracheal Tear in the Early Postoperative Period of Spinal Surgery in a Paraplegic Achondroplastic Dwarf

Case Reports in Orthopedics, 2013
Achondroplasia was first described in 1878 and is the most common form of human skeletal dysplasia. Spinal manifestations include thoracolumbar kyphosis, foramen magnum, and spinal stenosis.
Sinan Kahraman, Meriç Enercan, Özkan Demirhan, Türker Şengül, Levent Dalar, Azmi Hamzaoğlu   +5 more
doaj   +1 more source

Multidisciplinary Management of Acute Tetraparesis in an Infant with Achondroplasia, with a Focus on Anesthetic Strategies: A Case Report

Children
Background/Objectives: This report details a rare instance of an infant with achondroplasia developing acute tetraparesis after a cervical whiplash injury, highlighting key multidisciplinary management considerations and specific anesthetic strategies to
Barbora Nedomová, Robert Chrenko, Salome Jakešová, Petra Zahradníková, Martin Hanko, Ľubica Tichá   +5 more
doaj   +1 more source

Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age‐Stratified Guidelines

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT This systematic review aimed to collect and appraise the clinical outcomes of all orthopaedic, orthodontic and surgical interventions in ACH patients. Following PROSPERO protocol, multiple database sources were searched to December 2024 with no language restrictions for (i) genetically confirmed ACH; (ii) any orthodontic/orthopaedic ...
Marco Farronato, Maria Francesca Bedeschi, Cristina Grippaudo, Gianluca Martino Tartaglia, Berardo Rinaldi, Cinzia Maspero   +5 more
wiley   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1372-1377, June 2026.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

Scientific Reports, 2017
Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by defective osteoclastic resorption of bone that results in increased bone density.
Eva-Lena Stattin, Petra Henning, Joakim Klar, Emma McDermott, Christina Stecksen-Blicks, Per-Erik Sandström, Therese G. Kellgren, Patrik Rydén, Göran Hallmans, Torsten Lönnerholm, Adam Ameur, Miep H. Helfrich, Fraser P. Coxon, Niklas Dahl, Johan Wikström, Ulf H. Lerner   +15 more
doaj   +1 more source

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report

Molecular Genetics & Genomic Medicine, 2020
Background Achondroplasia (ACH), the most common form of short‐limbed skeletal dysplasia, is caused by gain‐of‐function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.
Tadashi Nagata, Masaki Matsushita, Kenichi Mishima, Yasunari Kamiya, Kohji Kato, Miho Toyama, Tomoo Ogi, Naoki Ishiguro, Hiroshi Kitoh   +8 more
doaj   +1 more source