Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report

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. We...

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Bibliographic Details
Published inJBJS case connector Vol. 13; no. 3
Main Authors DeGenova, Daniel T, Wing, Anthony O, Perugini, Anthony J, Petersen, Matthew J, Misbrener, Emily, Tulchin-Francis, Kirsten, Kadado, Allen
Format Journal Article
LanguageEnglish
Published United States 01.07.2023
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Summary: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. 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.
ISSN:2160-3251
DOI:10.2106/JBJS.CC.23.00183