Publications by authors named "Didier Griffiths"
Article Synopsis
- * A case was presented involving a 21-year-old woman with several health issues, including bilateral glaucoma and radiculomegaly, confirmed through cone-beam CT scans.
- * Genetic testing identified a specific mutation related to OFCD syndrome, and further scans revealed an atrial septal defect that was surgically repaired, highlighting the critical role of diagnosing radiculomegaly for effective clinical management and cardiac evaluations.
Kenny-Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE gene coding for a tubulin-specific chaperone E, is located at chromosome 1q42-q43, and is responsible for the recessive form. After reviewing the literature, we found around 60 cases, however with limited dental data.
View Article and Find Full Text PDFWe report a new case of oculo-ectodermal syndrome who developed giant cell granulomas of the jaw, similar to the patient previously described by Toriello et al. (1999). We review reported cases to better delineate the clinical spectrum of this rare condition.
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