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DOI: 10.4103/ijri.IJRI_353_19
Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review
Financial support and sponsorship Nil.
Abstract
Crouzon syndrome is the most common form of craniofacial dysostosis, characterised by a classical triad of abnormal skull shape, abnormal facies, and exophthalmos. The clinically overt dental abnormalities in these patients, distracts clinicians from the developmental neurological defects and therefore this entity remains relatively under - highlighted in radiology literature. We report and highlight the role of imaging in diagnosis of Crouzon syndrome in two patients, and discuss the relevant differential diagnosis. Moreover, our report is among the few Indian studies in which Crouzon syndrome was confirmed by genetic studies. The classical clinical triad of Crouzon syndrome was observed in both patients. The skull radiographs and cranial CT with 3D reconstruction VRT (Volume rendered technique), revealed characteristic radiological features. Genetic studies reconfirmed the clinical and radiological diagnosis of Crouzon syndrome, in both patients.
Keywords
Crouzon Syndrome - dental abnormalities - Imaging - Skull radiographs - Cranial CT - Volume rendered technique - Genetic studiesPublication History
Received: 04 September 2019
Accepted: 26 September 2019
Article published online:
21 July 2021
© 2019. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).
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