New treatments for children with achondroplasia.
Lancet Child Adolesc Health
; 8(4): 301-310, 2024 Apr.
Article
en En
| MEDLINE
| ID: mdl-38485412
ABSTRACT
Achondroplasia is the most common form of dwarfism in humans, caused by a common pathogenic variant in the gene encoding fibroblast growth factor receptor 3, FGFR3, which impairs the process of endochondral ossification of the growing skeleton. In this Review, we outline the clinical and genetic hallmarks of achondroplasia and related FGFR3 conditions, the natural history and impact of achondroplasia over a patient's lifespan, and diagnosis and management options. We then focus on the new and emerging drug therapies that target the underlying pathogenesis of this condition. These new options are changing the natural growth patterns of achondroplasia, with the prospect of better long-term health outcomes for patients.
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Base de datos:
MEDLINE
Asunto principal:
Acondroplasia
Idioma:
En
Revista:
Lancet Child Adolesc Health
Año:
2024
Tipo del documento:
Article