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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2019; 29(04): 442-447
DOI: 10.4103/ijri.IJRI_353_19
Case Report

Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review

Shabnam Bhandari Grover
Department of Radiology and Imaging, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India
,
Aanchal Bhayana
Department of Radiology and Imaging, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India
,
Hemal Grover
Department of Radiology and Imaging, Mount Sinai West, New York, USA
,
Seema Kapoor
Department of Genetics, Maulana Azad Medical College
,
Harish Chellani
Department of Paediatric Medicine, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India
› Institutsangaben Financial support and sponsorship Nil.
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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 studies


Publikationsverlauf

Eingereicht: 04. September 2019

Angenommen: 26. September 2019

Artikel online veröffentlicht:
21. Juli 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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