Results 41 to 50 of about 11,039 (220)

Diagnosis of Achondroplasia at Birth: A Case Report

Journal of Nepal Medical Association, 2020
Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead
Suzit Bhusal, Uttara Gautam, Rajan Phuyal, Robin Choudhary, Sunil Raja Manandhar, Aliska Niroula   +5 more
doaj   +1 more source

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child

Oman Journal of Ophthalmology, 2023
Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3.
H Kishore
doaj   +1 more source

Australian guidelines for the management of children with achondroplasia

Journal of Paediatrics and Child Health, 2023
Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support ...
Louise J Tofts, Jennifer A Armstrong, S. Broley, T. Carroll, Penelope J. Ireland, Min-Ji Koo, K. Langdon, Lesley Mcgregor, F. McKenzie, D. Mehta, R. Savarirayan, Tracy Tate, Alison Wesley, A. Zankl, Maree Jenner, Marta Eyles, V. Pacey   +16 more
semanticscholar   +1 more source

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population

bioRxiv, 2023
Human craniofacial shape is highly variable yet highly heritable with genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using ...
Michiel Vanneste, Hanne Hoskens, Seppe Goovaerts, H. Matthews, J. Aponte, Joanne B Cole, M. Shriver, M. Marazita, S. Weinberg, Susan Walsh, Stephen Richmond, O. Klein, R. Spritz, Hilde Peeters, B. Hallgrímsson, Peter Claes   +15 more
semanticscholar   +1 more source

Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia.

Endocrine journal, 2023
Achondroplasia is a rare skeletal dysplasia characterized by rhizomelic short stature, whose prevalence is about 1 per 25,000 births. For some patients with achondroplasia, excess body weight is one of the major concerns due to an impaired linear growth.
Y. Nakano, T. Kubota, Y. Ohata, S. Takeyari, T. Kitaoka, Y. Miyoshi, K. Ozono   +6 more
semanticscholar   +1 more source

Approach to the Patient with Achondroplasia-New Considerations for Diagnosis, Management, and Treatment.

J Clin Endocrinol Metab
Achondroplasia is the most common disproportionate short-stature skeletal dysplasia. Features associated with achondroplasia are rhizomelia, macrocephaly, midface hypoplasia, and typical cognition.
Merchant N, Hoover-Fong J, Carroll RS.
europepmc   +2 more sources

Results and complications of bilateral limb lengthening in achondroplasia: a retrospective analysis

Frontiers in Pediatrics, 2023
Background Achondroplasia is one of the main causes of disharmonic dwarfism. Patients with achondroplasia might have physical and psychological limitations due to their disproportionate stature.
F. Verdoni, R. Giorgino, Camilla Virgilio, Alessandra Nannini, M. Viganò, D. Curci, Giuseppe M Peretti, L. Mangiavini   +7 more
semanticscholar   +1 more source

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

Genetics in Medicine, 2021
Achondroplasia is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene that lead to impaired endochondral ossification.
R. Savarirayan, L. Tofts, M. Irving, W. Wilcox, C. Bacino, J. Hoover-Fong, Rosendo Ullot Font, P. Harmatz, F. Rutsch, M. Bober, L. Polgreen, I. Ginebreda, K. Mohnike, J. Charrow, Daniel G. Hoernschemeyer, K. Ozono, Y. Alanay, P. Arundel, Yumiko Kotani, N. Yasui, K. White, H. Saal, Antonio Leiva-Gea, F. Luna-González, Hiroshi Mochizuki, Donald G Basel, Dania M Porco, K. Jayaram, E. Fisheleva, A. Huntsman-Labed, Jonathan R. S. Day   +30 more
semanticscholar   +1 more source

Achondroplasia: a comprehensive clinical review

Orphanet Journal of Rare Diseases, 2019
Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the ...
R. Pauli
semanticscholar   +1 more source

Achondroplasia: Craniofacial manifestations and considerations in dental management

Saudi Dental Journal, 2010
Achondroplasia is the most common form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of dental interest because of its characteristic craniofacial features which include ...
Afnan Al-Saleem, Asma Al-Jobair
doaj   +1 more source