Orthopaedic Manifestations of Thanatophoric Dwarfism
Daniel T. DeGenova,
Anthony O. Wing,
Anthony J. Perugini
et al.
Abstract:Case:
We report the rare case of a 3-year-old male patient with thanatophoric dwarfism, a fatal skeletal dysplasia that arises from an autosomal dominant mutation in the fibroblast growth factor receptor 3 gene. The role of the orthopaedic surgeon in the in the management of this disease is discussed.
Conclusion:
We advocate for the close monitoring of disease progression by the orthopaedic surgery team and offer a potential surgical intervention that m… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.