Results 41 to 50 of about 7,277 (195)

Hearing loss in Norwegian adults with achondroplasia

, 2021
Background Achondroplasia is the most common form of disproportionate skeletal dysplasia. The condition is caused by a mutation in the FGFR3 gene, affecting endochondral bone growth, including the craniofacial anatomy.
Savarirayan, Ravi, Ravi Savarirayan, Jorunn Solheim, Hanne Berdal, Åberg, B, Svein O. Fredwall, Björn Åberg, Savarirayan, R, Solheim, J, Fredwall, Svein O., Åberg, Björn, Berdal, H, Berdal, Hanne, Fredwall, SO, Solheim, Jorunn   +14 more
core   +1 more source

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

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   +1 more source

Periodontal and orthodontic management of impacted canines

Periodontology 2000, EarlyView.
Abstract The maxillary and mandibular canines are described by many clinicians as the “cornerstone” of the arch. When in their optimal position, they play a critical role in providing a well‐balanced occlusal scheme that contributes toward functional as well as neuromuscular stability, harmony, esthetics, and dentofacial balance.
Mohammad Qali, Chenshuang Li, Chun‐Hsi Chung, Nipul Tanna   +3 more
wiley   +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

Optimal management of complications associated with achondroplasia [PDF]

, 2014
Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short stature, and affects over 250,000 people worldwide. Individuals with achondroplasia demonstrate a number of well-recognized anatomical features that impact ...
Pacey, Verity, Edwards, Priya, Savarirayan, Ravi, Savarirayan, R, Ireland, PJ, Zankl, A, Johnston, LM, Ireland, Penny J., Edwards, P, Johnston, Leanne M., Pacey, V, Zankl, Andreas   +11 more
core   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study

Orphanet Journal of Rare Diseases
Background Achondroplasia, a disease characterized by disproportionate short stature and increased morbidity, affects daily function and quality of life over the lifetime of the individual.
Nadia Merchant, Jose Alvir, Paulette Negron Ericksen, Jane Loftus, Jose Francisco Cara, Alison Slade, Michael P. Wajnrajch, Christine L. Baker   +7 more
doaj   +1 more source

Acute type A aortic dissection repair in an octogenarian with achondroplasia: a case report

Surgical Case Reports, 2018
Background Achondroplasia is an inherited disorder and the most common type of short-limbed dwarfism in human beings, affecting more than 250,000 individuals worldwide.
Shuji Moriyama, Masahiko Hara, Yasushi Kaneko   +2 more
doaj   +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

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source