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Article

Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report.

JBJS case connector - 1 Jul 2023

DeGenova Daniel T, Wing Anthony O, Perugini Anthony J, Petersen Matthew J, Misbrener Emily, Tulchin-Francis Kirsten, Kadado Allen

Abstract excerpt

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...

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Source

Identifiers

PMID: 37499053
DOI: 10.2106/JBJS.CC.23.00183

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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