Journal
ORPHANET JOURNAL OF RARE DISEASES
Volume 14, Issue -, Pages -Publisher
BMC
DOI: 10.1186/s13023-018-0972-6
Keywords
Achondroplasia; FGFR3; Skeletal dysplasia; Natural history; Care guidelines
Funding
- Department of Pediatrics, University of Wisconsin
Ask authors/readers for more resources
Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available