Abstract
Amelogenesis imperfecta is a heterogeneous group of >100 different rare diseases. Affected individuals and families are facing diagnostic uncertainty and wandering and a therapeutic odyssey. Continuous multidisciplinary management from childhood to adulthood is essential, emphasizing the critical role of health care professionals. Clinical and genetic diagnoses and treatment options are still a matter of discussion and debate. This article, written by the European Reference Network ERN CRANIO Orodental group, describes the roles of the involved health professionals and provides guidelines and timelines for critical intervention periods to improve the management of this condition.
| Original language | English |
|---|---|
| Pages (from-to) | 2921-2925 |
| Number of pages | 5 |
| Journal | The Journal of Craniofacial Surgery |
| Volume | 36 |
| Issue number | 8 |
| Early online date | 4 Sept 2025 |
| DOIs | |
| Publication status | Published - Nov 2025 |
Keywords
- Amelogenesis imperfecta
- care pathway
- comprehensive dental care
- multidisciplinary management
- patient care team
- rare diseases
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