Results 51 to 60 of about 7,277 (195)
Specific force of the vastus lateralis in adults with Achondroplasia. [PDF]
, 2018 Achondroplasia is a clinical condition defined by shorter stature and disproportionate limb length. Force production in able-bodied individuals (controls) is proportional to muscle size, but given the disproportionate nature of Achondroplasia ...
Carl Payton +9 more
core +2 more sources
Prenatal Diagnosis, Volume 46, Issue 10, Page 1637-1647, September 2026.ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa +10 more
wiley +1 more source
NFYB Integrates Hormonal Signals into Tissue Allometry by Promoting Protein Biosynthesis
Advanced Science, Volume 13, Issue 46, 17 August 2026.In the American cockroach, NFYB acts as a spatiotemporin that translates distinct hormonal cues into tissue‐specific allometry. Juvenile hormone activates NFYB in the early fat body, while 20‐hydroxyecdysone induces it in late wing pads. NFYB then promotes protein biosynthesis via core translational machinery, driving differential growth across the ...
Fangfang Liu +11 more
wiley +1 more source
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
Therapeutic Advances in Musculoskeletal Disease, 2022 Background: Achondroplasia is the most common short-limbed skeletal dysplasia resulting from gain-of-function pathogenic variants in fibroblast growth factor receptor 3 ( FGFR3 ) gene, a negative regulator of endochondral bone formation.
Ravi Savarirayan +25 more
doaj +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Experiences of children and adolescents living with achondroplasia and their caregivers
Molecular Genetics & Genomic Medicine, 2022 Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), leads to significant multisystem complications across the lifespan that may affect the health‐related quality of life (HRQoL) of ...
Renée Shediac +10 more
doaj +1 more source
Nature CommunicationsHuman craniofacial shape is highly variable yet highly heritable with numerous 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 +16 more
doaj +1 more source
Hypochondroplasia: An underrecognized neurodevelopmental disorder
Developmental Medicine &Child Neurology, EarlyView.
Janet M. Legare
wiley +1 more source
Journal of Obstetrics and Gynaecology Research, Volume 52, Issue 7, July 2026.ABSTRACT Spondyloepiphyseal dysplasia congenita (SEDC) is a rare skeletal dysplasia caused by heterozygous pathogenic variants in COL2A1, with short‐trunk stature and respiratory compromise during pregnancy. We report a 30‐year‐old primigravida with SEDC who achieved full‐term delivery under multidisciplinary management.
Masako Ueki +9 more
wiley +1 more source
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia
Achondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition.
AlSayed, Moeenaldeen +18 more
core +1 more source