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Case Reports
. 2023 Jul 27;13(3).
doi: 10.2106/JBJS.CC.23.00183. eCollection 2023 Jul 1.

Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report

Daniel T DeGenova  1 , Anthony O Wing  1 , Anthony J Perugini  1 , Matthew J Petersen  2 , Emily Misbrener  3 , Kirsten Tulchin-Francis  4 , Allen Kadado  4
Affiliations
Case Reports

Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report

Daniel T DeGenova et al. JBJS Case Connect. .

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 may help prevent cardiorespiratory demise.

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Conflict of interest statement

Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/C133).

References

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