Vosoritide treatment for children with hypochondroplasia: a phase 2 trial [PDF]
EClinicalMedicineBACKGROUND: 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.
Andrew Dauber +2 more
exaly +3 more sources
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 +8 more
doaj +2 more sources
Growth reference charts for children with hypochondroplasia [PDF]
American Journal of Medical Genetics Part A, Volume 194, Issue 2, Page 243-252, February 2024., 2023 Abstract Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population. Anthropometric data were collected to generate height, weight, and head circumference (HC) growth reference charts for children with a diagnosis of HCH.
Moira S. Cheung +18 more
wiley +2 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 +12 more
doaj +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 +3 more
doaj +1 more source
The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature. [PDF]
Am J Hum BiolABSTRACT 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 +4 more
europepmc +2 more sources
Infigratinib low dose therapy is an effective strategy to treat hypochondroplasia [PDF]
Journal of Bone and Mineral ResearchFlorent Barbault +2 more
exaly +2 more sources
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 +2 more
doaj +3 more sources
The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia. [PDF]
Prenat DiagnABSTRACT 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 +12 more
europepmc +2 more sources