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Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia [PDF]

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, Paley Dror
exaly   +5 more sources

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   +2 more sources

What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer [PDF]

Frontiers in Pediatrics, 2023
Children with skeletal dysplasia are frequently referred to pediatric endocrinologists due to short stature. These children may present with disproportionate growth or medical histories that point to a skeletal dysplasia. This primer will discuss when to
Janet M. Legare, Donald Basel
doaj   +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

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

Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report [PDF]

BMC Pediatrics, 2023
Background Hypochondroplasia (HCH) is a common nonlethal skeletal dysplasia caused by pathogenic variations in the fibroblast growth factor receptor 3 (FGFR3) gene, and HCH has similar clinical manifestations with achondroplasia (ACH), which can be ...
Hua Xie, Yulin Chen, Fei Xiong, Jinrong Li, Fan Yang   +4 more
doaj   +2 more sources

Fibroblast growth factor receptor 3 mutation promotes HSPB6-mediated cuproptosis in hypochondroplasia by impairing chondrocyte autophagy [PDF]

Journal of Orthopaedic Translation
Background: Hypochondroplasia (HCH) is a prevalent form of dwarfism linked to mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, causing missense alterations.
Jing Chen, Dan He, Chengrun Yuan, Na Li, Baohong Shi, Conway Niu, Jiangfei Yang, Liangkai Zheng, Lin Che, Ren Xu   +9 more
doaj   +2 more sources

FGFR antagonists restore defective mandibular bone repair in a mouse model of osteochondrodysplasia [PDF]

Bone Research
Gain-of-function mutations in fibroblast growth factor receptor (FGFR) genes lead to chondrodysplasia and craniosynostoses. FGFR signaling has a key role in the formation and repair of the craniofacial skeleton. Here, we analyzed the impact of Fgfr2- and
Anne Morice, Amélie de La Seiglière, Alexia Kany, Roman H. Khonsari, Morad Bensidhoum, Maria-Emilia Puig-Lombardi, Laurence Legeai Mallet   +6 more
doaj   +2 more sources

TYRA-300, an FGFR3-selective inhibitor, promotes bone growth in two FGFR3-driven models of chondrodysplasia [PDF]

JCI Insight
Achondroplasia (ACH) and hypochondroplasia (HCH), the two most common types of dwarfism, are each caused by FGFR3 gain-of-function mutations that result in increased FGFR3 signaling, which disrupts chondrogenesis and osteogenesis, resulting in ...
Jacqueline H. Starrett, Clara Lemoine, Matthias Guillo, Chantal Fayad, Nabil Kaci, Melissa Neal, Emily A. Pettitt, Melissandre Pache, Qing Ye, My Chouinard, Eric L. Allen, Geneviève Baujat, Robert L. Hudkins, Michael B. Bober, Todd Harris, Ronald V. Swanson, Laurence Legeai-Mallet   +16 more
doaj   +2 more sources

Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2022
Skeletal dysplasia is a diverse group of disorders that affect bone development and morphology. Currently, approximately 461 different genetic skeletal disorders have been identified, with over 430 causative genes.
Hwa Young Kim, Jung Min Ko
doaj   +1 more source