Results 81 to 90 of about 7,277 (195)

Current Care and Investigational Therapies in Achondroplasia [PDF]

, 2017
The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe.
Bonafé, L., Unger, S., Gouze, E., Sheila Unger, Luisa Bonafé, Elvire Gouze   +5 more
core   +1 more source

Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America

Genetics in Medicine Open
Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden.
Juan Llerena, Jr, Pablo Rosselli, Amanda Aragão, Cristina Valenzuela, Debora Bertola, Yaneth Mendez, Mariana del Pino, Nicolette Calvacanti, Paula Thomazinho, Jeanne M. Pimenta, Shelda Cohen, Tom Butt, José C. Thomaz, Jr, Renée Shediac, Richard Rowell, Tatiana S.P.C. Magalhães, Chong Kim, Virginia Fano   +17 more
doaj   +1 more source

Sustained hip flexion contracture after femoral lengthening in patients with achondroplasia

BMC Musculoskeletal Disorders, 2018
Background Hip flexion contracture often occurs after femoral lengthening in patients with achondroplasia, but few studies have investigated its development in these patients.
Mi Hyun Song, Tae-Jin Lee, Jong Hyeop Song, Hae-Ryong Song   +3 more
doaj   +1 more source

Elevated serum aminotransferases in an infant with failure to thrive: A clinicopathological case report

JPGN Reports, Volume 7, Issue 2, Page 340-348, May 2026.
Jamie M. Klapp, Lauren Nichols, Nicholas J. Gloude, Amber Hildreth, Kathleen B. Schwarz   +4 more
wiley   +1 more source

Achondroplasia [PDF]

, 2020
K. Gupta, P. Carmichael, A. Zumla
  +6 more sources

Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale

Diagnostics
Background/Objectives: Achondroplasia is the most common skeletal dysplasia, affecting 1 in 25,000 births. Limited research exists on the assessment of functional independence using standardized tools in children and adolescents with achondroplasia.
Chung-Lin Lee, Hung-Hsiang Fang, Chih-Kuang Chuang, Dau-Ming Niu, Ju-Li Lin, Mei-Chyn Chao, Yen-Yin Chou, Pao Chin Chiu, Chia-Chi Hsu, Tzu-Hung Chu, Yin-Hsiu Chien, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin   +16 more
doaj   +1 more source

Achondroplasia [PDF]

BMJ, 1906
G, Rankin, E C, Mackay
openaire   +3 more sources

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene

The Turkish Journal of Pediatrics, 2003
Achondroplasia, the most common form of skeletal dysplasia in man, has autosomal dominant inheritance and causes severe dwarfism. More than 90% of patients with achondroplasia have a G to A transversion or G to C transversion at position 1138 of ...
Sacide Pehlivan, Ferda Ozkinay, Ozlem Okutman, Ozgür Coğulu, Ali Ozcan, Tufan Cankaya, Ayfer Ulgenalp   +6 more
doaj  

Achondroplasia: Current concept of orthopaedic management

Journal of Children's Orthopaedics
Achondroplasia, the most common form of inherited disproportionate short stature, is caused by mutations in the fibroblast growth factor receptor 3 gene.
Gabriel T Mindler, Alexandra Stauffer, Catharina Chiari, Kiril Mladenov, Joachim Horn   +4 more
doaj   +1 more source

Circulating bone biomarkers as indicators of growth in children with achondroplasia

Endocrine and Metabolic Science
Achondroplasia is a hereditary condition caused by a mutation in the FGFR3 receptor leading to impaired growth in children.In a longitudinal study we followed the growth of children with achondroplasia aged from two to fourteen years with regular blood ...
G. Rignol, K. Roberts, A. Slade, C. Czech, M. Ljungberg   +4 more
doaj   +1 more source