Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review
| Autor: | Harish Chellani, Shabnam Bhandari Grover, Hemal Grover, Seema Kapoor, Aanchal Bhayana |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
genetic studies
musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Exophthalmos Radiography R895-920 Case Report 030218 nuclear medicine & medical imaging Medical physics. Medical radiology. Nuclear medicine 03 medical and health sciences 0302 clinical medicine medicine Abnormal skull shape Imaging diagnosis Radiology Nuclear Medicine and imaging crouzon syndrome skull radiographs business.industry imaging Crouzon syndrome 030206 dentistry medicine.disease volume rendered technique Skull cranial ct medicine.anatomical_structure Cranial ct dental abnormalities Radiology Differential diagnosis medicine.symptom business |
| Zdroj: | Indian Journal of Radiology and Imaging, Vol 29, Iss 04, Pp 442-447 (2019) The Indian Journal of Radiology & Imaging |
| ISSN: | 1998-3808 0971-3026 |
| DOI: | 10.4103/ijri.ijri_353_19 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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