Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report.
Journal
JBJS case connector
ISSN: 2160-3251
Titre abrégé: JBJS Case Connect
Pays: United States
ID NLM: 101596828
Informations de publication
Date de publication:
01 07 2023
01 07 2023
Historique:
medline:
31
7
2023
pubmed:
27
7
2023
entrez:
27
7
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37499053
doi: 10.2106/JBJS.CC.23.00183
pii: 01709767-202309000-00018
doi:
Substances chimiques
Receptor, Fibroblast Growth Factor, Type 3
EC 2.7.10.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2023 by The Journal of Bone and Joint Surgery, Incorporated.
Déclaration de conflit d'intérêts
Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/C133).
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