Atypical case of amelogenesis imperfecta and generalized impacted dentitions: dental management and follow ups | ||
| Middle East Journal of Medical Genetics | ||
| Volume 12, Issue 1, January 2023, Pages 1-4 PDF (609.26 K) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/mxe.2024.270400.1018 | ||
| Authors | ||
| Nehal F. Hassib* ; Usama S. Hellal; Mostafa I. Mostafa | ||
| Orodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. | ||
| Abstract | ||
| Background: Odontogenesis is a complicated process that ends with normal dentition formation followed by ordinary eruption time. Many genes regulate tooth development; however, any alteration in the odontogenic mechanism can lead to malformed teeth formation or inappropriate eruption behavior. Aim: We present a 17-year-old patient who complained of unerupted teeth with amelogenesis imperfecta (AI). Methods: The patient was subjected to full medical and dental histories taking and a comprehensive dental management with long-term follow-ups were performed. A blood sample was taken and whole exome sequencing (WES) was performed for patient. Results: WES data excluded variants in any of the known causative genes of AI or delayed eruption. This may point to either the presence of a deep intronic variant which requires the use of a higher technology like whole genome sequencing or a new unraveled gene for AI and delayed eruption. Although the unknown genetic etiology of the condition. Conclusion: The provided dental procedure was satisfactory to the patient. The long-term follow-ups helped in better case evaluation. Inherited disorders remain always challenging in diagnostic and management aspects. | ||
| Keywords | ||
| Amelogenesis imperfecta; Delayed eruptione; Impacted dentition; Orthotraction | ||
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