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Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.
Childs Nerv Syst
December 2023
Department of Neurosurgery, Great Ormond Street Hospital for Children, London, UK.
Objective: Foramen magnum(FM) stenosis can be responsible for acute and chronic damage to the cervicomedullary junction in children with achondroplasia. The bony anatomy and patterns of suture fusion of the FM in this context are incompletely understood, yet becoming increasingly important in the light of novel medical therapies for achondroplasia. The objective of this study was to describe and quantify bony anatomy and fusion patterns of FM stenosis in patients with achondroplasia using CT scans, comparing them to age-matched controls and other FGFR3 craniosynostosis patients.
View Article and Find Full Text PDFCraniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.
Orphanet J Rare Dis
April 2023
Service de chirurgie maxillofaciale et chirurgie plastique, Centre de Référence Maladies Rares MAFACE, Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.
Background: Achondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea. Craniofacial growth and its correlation with obstructive sleep apnea syndrome has not been assessed in achondroplasia. In this study, we provide a multimodal analysis of craniofacial growth and anatomo-functional correlations between craniofacial features and the severity of obstructive sleep apnea syndrome.
View Article and Find Full Text PDFHigh-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with -Related Skeletal Dysplasias.
Genet Test Mol Biomarkers
October 2021
Laboratório de Medicina Genômica and Centro de Genética Médica-Serviço de Referência em Doenças Raras/IFF/FIOCRUZ, Rio de Janeiro, Brasil.
Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are related to skeletal dysplasias (SDs): acondroplasia (ACH), hypochodroplasia (HCH) and type I (TDI) and II (TDII) tanatophoric dysplasias. This study was designed to standardize and implement a high-resolution melting (HRM) technique to identify mutations in patients with these phenotypes. Initially, gene segments from 84 patients were PCR amplified and subjected to Sanger sequencing.
View Article and Find Full Text PDFAn intronic variant disrupts mRNA splicing and causes -related skeletal dysplasia.
J Pediatr Endocrinol Metab
October 2021
Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine; Shanghai Institute for Pediatric Research, Shanghai, China.
Objectives: Achondroplasia and hypochondroplasia are the most common forms of disproportionate short stature, of which the vast majority of cases can be attributed to the hotspot missense mutations in the gene . Here we presented cases with a novel cryptic splicing variant of gene and aimed to interrogate the variant pathogenicity.
Case Presentaiton: In whole exome sequencing of two patients with hypochondroplasia-like features, a intronic variant c.
An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice.
Sci Transl Med
May 2021
Department of Biology, Faculty of Medicine, Masaryk University, 62500 Brno, Czech Republic.
Achondroplasia is the most prevalent genetic form of dwarfism in humans and is caused by activating mutations in FGFR3 tyrosine kinase. The clinical need for a safe and effective inhibitor of FGFR3 is unmet, leaving achondroplasia currently incurable. Here, we evaluated RBM-007, an RNA aptamer previously developed to neutralize the FGFR3 ligand FGF2, for its activity against FGFR3.
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