Results 51 to 60 of about 11,039 (220)

Anesthetic management for emergency cesarean delivery in parturient with achondroplasia – A case report and review of the literature

Journal of Obstetric Anaesthesia and Critical Care, 2020
Achondroplasia is a genetic disorder where there is underdevelopment and shortening of the long bones formed by endochondral ossification without abnormalities of cartilage formation.
Youssef Motiaa, Wafae El Otmani, Zakaria Ouassou, Khalid Azizi   +3 more
doaj   +1 more source

Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation. [PDF]

PLoS ONE, 2012
Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism. The G380R mutation accounts for 98% of the achondroplasia cases, and thus has been studied extensively.
Lijuan He, Christopher Serrano, Nitish Niphadkar, Nadia Shobnam, Kalina Hristova   +4 more
doaj   +1 more source

Anesthesia Management in Achondroplasia: A Case Report

Archives of Anesthesia and Critical Care, 2021
Achondroplasia is the result of a mutation in the gene encoding the type 3 receptor for a fibroblast growth factor. This abnormality results in malformation endochondral ossification.
Houman Teymourian, Hamidreza Azizi Faresani, Faranak Behnaz, Arash Tafrishinejad, Hamideh Ariannia, Sogol Asgari   +5 more
doaj   +1 more source

Achondroplasia

, 2018
Children with achondroplasia, the most common cause of short stature, pose several challenges for the anesthesiologists who care for them. Although a rare condition, individuals affected with achondroplasia have a normal life span and frequently present to the operating room for much needed otolaryngologic, neurosurgical, and orthopedic procedures. The
Trevor Whitwell, Antonio Gonzalez Fiol
  +5 more sources

Living With Hypochondroplasia: A Qualitative Exploration of Children's and Caregivers' Experiences, Challenges, and Unmet Needs. [PDF]

Mol Genet Genomic Med
Summary of findings from a qualitative study on the experiences and unmet needs of children with hypochondroplasia and their caregivers. ABSTRACT Background Hypochondroplasia (HCH) is a rare genetic skeletal dysplasia characterized by short stature, disproportionate limbs, and complications such as learning differences.
Oehrlein EM, Pekala R, Cavallaro S, Cho M, Crews C, Dauber A, Saxena A, Vandigo J, Reese ES.   +8 more
europepmc   +2 more sources

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

Genetics in Medicine, 2021
Achondroplasia is the most common short stature skeletal dysplasia (1:20,000–30,000), but the risk of adverse health outcomes from cardiovascular diseases, pain, poor function, excess weight, and sleep apnea is unclear.
J. Hoover-Fong, Adekemi Y. Alade, S. Hashmi, J. Hecht, Janet M. Legare, M. Little, Chengxin Liu, J. McGready, P. Modaff, R. Pauli, David F. Rodriguez-Buritica, K. Schulze, M. Serna, Cory J. Smid, M. Bober   +14 more
semanticscholar   +1 more source

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 ...
R. Savarirayan, W. Baratela, T. Butt, V. Cormier-Daire, M. Irving, B. Miller, K. Mohnike, K. Ozono, Ron G. Rosenfeld, A. Selicorni, D. Thompson, K. White, Michael Wright, S. Fredwall   +13 more
semanticscholar   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia. [PDF]

PLoS ONE, 2018
Achondroplasia is a rare genetic disease is characterized by abnormal bone development and early obesity. While the bone aspect of the disease has been thoroughly studied, early obesity affecting approximately 50% of them during childhood has been ...
Celine Saint-Laurent, Stephanie Garcia, Vincent Sarrazy, Karine Dumas, Florence Authier, Sophie Sore, Albert Tran, Philippe Gual, Isabelle Gennero, Jean-Pierre Salles, Elvire Gouze   +10 more
doaj   +1 more source

Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis

American Journal of Medical Genetics. Part A, 2020
Achondroplasia is a genetic disorder that results in disproportionate short stature. The true prevalence of achondroplasia is unknown as estimates vary widely. This systematic literature review and meta‐analysis was conducted to better estimate worldwide
Pamela K Foreman, F. van Kessel, R. V. van Hoorn, J. van den Bosch, R. Shediac, Sarah Landis   +5 more
semanticscholar   +1 more source