Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report.

Document Type

Article

Publication Title

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.

DOI

10.2106/JBJS.CC.23.00183

Publication Date

7-1-2023

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