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Indian J Radiol Imaging. 2019 Oct-Dec;29(4):442-447. doi: 10.4103/ijri.IJRI_353_19. Epub 2019 Dec 31.

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

Author information

1
Department of Radiology and Imaging, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.
2
Department of Radiology and Imaging, Mount Sinai West, New York, USA.
3
Department of Genetics, Maulana Azad Medical College, New Delhi, India.
4
Department of Paediatric Medicine, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

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:

Cranial CT; Crouzon Syndrome; Genetic studies; Imaging; Skull radiographs; Volume rendered technique; dental abnormalities

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