Literature DB >> 33953485

High-resolution computed tomography temporal bone imaging in achondroplasia.

Puneet S Kochar1, Priti Soin2, Ayah Megahed3.   

Abstract

Achondroplasia is a genetic condition caused by disordered endochondral ossification, which leads to rhizomelic dwarfism and midfacial hypoplasia. Additionally, several morphologic changes in the temporal bone are thought to at least partially contribute to hearing loss in these patients. We present a patient with achondroplasia who presented with hearing loss and was referred to radiology for temporal bone imaging. High-resolution computed tomography of temporal bones demonstrated several interesting morphological abnormalities characteristic of achondroplasia.
Copyright © 2021 Baylor University Medical Center.

Entities:  

Keywords:  Achondroplasia; high-resolution computed tomography; temporal bone; towering petrous ridges

Year:  2021        PMID: 33953485      PMCID: PMC8059903          DOI: 10.1080/08998280.2020.1868245

Source DB:  PubMed          Journal:  Proc (Bayl Univ Med Cent)        ISSN: 0899-8280


  6 in total

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Journal:  Int J Pediatr Otorhinolaryngol       Date:  1981-04       Impact factor: 1.675

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Journal:  J Biol Chem       Date:  2011-02-15       Impact factor: 5.157

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Journal:  AJNR Am J Neuroradiol       Date:  1988 Nov-Dec       Impact factor: 3.825

6.  Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

Authors:  R Shiang; L M Thompson; Y Z Zhu; D M Church; T J Fielder; M Bocian; S T Winokur; J J Wasmuth
Journal:  Cell       Date:  1994-07-29       Impact factor: 41.582

  6 in total

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