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 in:	JBJS 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
Language:	English
Published:	United States Journal of Bone and Joint Surgery, Inc 01-07-2023
Online Access:	Get full text
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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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	2160-3251 2160-3251
DOI:	10.2106/JBJS.CC.23.00183