Results 1 to 10 of about 955 (118)

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

Molecular Genetics & Genomic Medicine
Background Hypochondroplasia (HCH) is a rare genetic skeletal dysplasia characterized by short stature, disproportionate limbs, and complications such as learning differences.
Elisabeth M. Oehrlein, Reni Pekala, Stacie Cavallaro, Margaret Cho, Chandler Crews, Andrew Dauber, Ankita Saxena, Joe Vandigo, Emily S. Reese   +8 more
doaj   +3 more sources

A phase 3, randomized, double-blind, placebo-controlled, multicenter study to evaluate the efficacy and safety of vosoritide in children with hypochondroplasia: CANOPY HCH-3 study design [PDF]

Therapeutic Advances in Endocrinology and Metabolism
Background Hypochondroplasia is a skeletal dysplasia characterized by disproportionate short stature that is caused by gain-of-function variants in the fibroblast growth factor receptor 3 gene ( FGFR3 ), which negatively regulates endochondral bone ...
Andrew Dauber, Ravi Savarirayan, Ricki Carroll, Moira Cheung, Valérie Cormier-Daire, Mohamad Maghnie, Noriyuki Namba, Oliver Semler, Sajda Ghani, Ian Sabir, Roberto Bassi   +10 more
doaj   +2 more sources

Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia

Children, 2021
Extensive limb lengthening (ELL) was completed in 75 patients: 66 achondroplasia and 9 hypochondroplasia. The average lengthening was 27 cm for achondroplasia (12–40 cm) and 17 cm for hypochondroplasia (range 10–25 cm). There were 48 females and 27 males.
Dror Paley
exaly   +3 more sources

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature. [PDF]

Am J Hum Biol
ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Maruichi MD, Destailleur BT, Apelbaum GM, Longui CA, Kochi C.   +4 more
europepmc   +2 more sources

Pathways to enhancing prenatal diagnosis of skeletal dysplasias. [PDF]

Pregnancy (Hoboken)
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Wang MJ, Jacobsen C, Arnold J, Wapner RJ, Krakow D.   +4 more
europepmc   +2 more sources

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis [PDF]

Orphanet Journal of Rare Diseases
Background Achondroplasia (ACH) and hypochondroplasia (HCH) are among the most common forms of skeletal dysplasia, caused by gain-of-function variants in the FGFR3 gene, leading to disproportionate short stature.
Genevieve Baujat, Marc-Antoine Hamandjian, Anne-Sophie Jannot, Pierre Karam, Valérie Cormier-Daire   +4 more
doaj   +2 more sources

Growth plate cartilage-targeting nanoparticles for pharmacological treatment of hypochondroplasia [PDF]

Bioactive Materials
Hypochondroplasia (HCH) is a systemic cartilage disorder caused by gain-of-function mutations in FGFR3, resulting in overactivation of signaling and short stature.
Shang-Hui Ye, Lian-Jie Li, Yi-Jiao Wang, Cheng-Run Yuan, Jie Han, Dan He, Lin Che, Xiao-Hui Chen, Rong Shen, Jian Yang, Matthew B. Greenblatt, Xian-Xian Yang, Jian-Min Huang, Jing Chen, Ren Xu   +14 more
doaj   +2 more sources

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study [PDF]

Orphanet Journal of Rare Diseases
Background This cross-sectional study investigated mental health conditions, physical functioning, and health-related quality of life (HRQOL) in adults with short-statured skeletal dysplasia conditions across three centres; in New York, Newcastle-upon ...
Elisabeth Fagereng, Su Htwe, Sam McDonald, Chloe Derocher, Marta Bertoli, Erin Carter, Anne-Mette Bredahl, Taran Blakstvedt, Micheal Wright, Cathleen Raggio, Svein Fredwall   +10 more
doaj   +2 more sources

Case Report: Proportionate short stature in a three-generation family harboring FGFR3 N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature [PDF]

Frontiers in Endocrinology
ObjectiveTo report the identification of a FGFR3 gene variant in a family with idiopathic short stature, characterized by proportionate stature and the absence of dysmorphic features, and to highlight the importance of genetic investigation in ISS as ...
Beibei Zhang, Xinmeng Wang, Jingjie Luo, Chunxiu Gong   +3 more
doaj   +2 more sources

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study. [PDF]

Acta Obstet Gynecol Scand
Of the 147 SD fetuses, 58 cases with negative CMA results underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3 (n = 11), COL1A1 (n = 2), COL1A2 (n = 1), RUNX2 (n = 1), COL2A1 (n = 1), LMX1B (n = 1), GLI3 (n = 1), DYNC2H1 (n = 1), ALPL (n = 1), and SHOX (n = 1).
Jiang M, Zhang B, Wang J, Qiao W, Mao X, Yu B.   +5 more
europepmc   +2 more sources