Results 11 to 20 of about 1,239 (147)

Molecular Basis for Hypochondroplasia in Japan

Endocrines, 2022
Hypochondroplasia is an autosomal dominant genetic disorder due to a heterozygous pathogenic variant of the FGFR3 gene. The early diagnosis of hypochondroplasia is necessary, since growth hormone is effective for improving adult height.
Tomohiro Ishii, Masaki Takagi, Keisuke Nagasaki, Toshio Ohara, Kentaro Miyai, Tomoki Kosho, Fumio Takada, Gen Nishimura, Tomonobu Hasegawa   +8 more
doaj   +2 more sources

Vosoritide treatment for children with hypochondroplasia: a phase 2 trial [PDF]

EClinicalMedicine
BACKGROUND: Hypochondroplasia is a rare autosomal dominant skeletal dysplasia due to activating variants in . It presents with disproportionate short stature with a wide range of clinical severity.
Roopa Kanakatti Shankar, Andrew Dauber
exaly   +3 more sources

Neurodevelopmental and neurological features in children with hypochondroplasia

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter, Rhoda Akilapa, Alessandra Cocca, Melita D. Irving   +3 more
wiley   +2 more sources

Hypochondroplasia with Foramen Magnum Stenosis: a Case Report

Balkan Medical Journal, 2011
Hypochondroplasia was first reported in the English literature by Beals (1969). The features are similar to those of achondroplasia but are less severe and are usually reported not to involve the skull.
Nazik Aşılıoğlu, Alper Ateş, Ayşe Ayzıt Kılınç, Adnan Dağçınar   +3 more
doaj   +3 more sources

Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice [PDF]

JCI Insight, 2023
Hypochondroplasia (HCH) is a mild dwarfism caused by missense mutations in fibroblast growth factor receptor 3 (FGFR3), with the majority of cases resulting from a heterozygous p.Asn540Lys gain-of-function mutation.
Léa Loisay, Davide Komla-Ebri, Anne Morice, Yann Heuzé, Camille Viaut, Amélie de La Seiglière, Nabil Kaci, Danny Chan, Audrey Lamouroux, Geneviève Baujat, J.H. Duncan Bassett, Graham R. Williams, Laurence Legeai-Mallet   +12 more
doaj   +2 more sources

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia. [PDF]

Prenat Diagn
ABSTRACT Objectives Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non‐invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation.
Verebi C, Gravrand V, Guerini C, Anselem O, Vaucouleur N, Boimard LO, Ben Ouazzou R, Demirtas C, Leturcq F, Bienvenu T, Tsatsaris V, Pannier E, Nectoux J.   +12 more
europepmc   +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

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

Frequency of the allelic variant c.1150T > C in exon 10 of the fibroblast growth factor receptor 3 (FGFR3) gene is not increased in patients with pathogenic mutations and related chondrodysplasia phenotypes [PDF]

Genetics and Molecular Biology, 2014
Mutations in the FGFR3 gene cause the phenotypic spectrum of FGFR3 chondrodysplasias ranging from lethal forms to the milder phenotype seen in hypochondroplasia (Hch).
Thatiane Yoshie Kanazawa, Luciana Cardoso Bonadia, Denise Pontes Cavalcanti   +2 more
doaj   +3 more sources

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

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   +1 more source