Ann Pediatr Endocrinol Metab.
2022 Jun;27(2):90-97. 10.6065/apem.2244114.057.
Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood
- Affiliations
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- 1Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, Korea
- 2Rare Disease Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
- KMID: 2531272
- DOI: http://doi.org/10.6065/apem.2244114.057
Abstract
- 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. Among these, fibroblast growth factor receptor 3 (FGFR3)-related skeletal dysplasia is a relatively common subgroup of skeletal dysplasia. Pediatric endocrinologists may encounter a suspected case of skeletal dysplasia in their practice, especially when evaluating children with short stature. Early and accurate diagnosis of FGFR3-related skeletal dysplasia is essential for timely management of complications and genetic counseling. This review summarizes 5 representative and distinct entities of skeletal dysplasia caused by pathogenic variants in FGFR3 and discusses emerging therapies for FGFR3-related skeletal dysplasias.
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