Dental and Craniofacial Anomalies in Fanconi Anemia: A Systematic Review and Additional 46 Reports.

Objective: Fanconi anemia (FA), a rare genetic disorder, has not been comprehensively studied regarding its dental and craniofacial phenotypes. This study aimed to systematically review the available evidence on dental, occlusion, and craniofacial anomalies in individuals with FA and to describe the occurrence of these anomalies in a cohort from two Brazilian referral centers.

Materials and methods: Electronic searches were conducted across six databases, supplemented by manual searches and gray literature. The Brazilian cohort included 46 patients diagnosed with FA.

Results: A total of 19 articles describing 158 cases of FA were analyzed. The estimated prevalence of dental/craniofacial anomalies ranged from 13.3% to 71.4%. In our cohort, 93.5% of patients exhibited anomalies, primarily root abnormalities (69.6%), tooth rotation (54.3%), and tooth agenesis (26%). Males (p = 0.031) and individuals with endocrine disorders (p = 0.047) were more likely to experience alterations in eruption and/or exfoliation. Anomalies in size and shape were significantly more prevalent among individuals who had undergone hematopoietic stem-cell transplantation at age 14 or older (p = 0.002).

Conclusion: The high occurrence of dental/craniofacial anomalies in individuals with FA suggests that these anomalies are part of the disease's phenotypic spectrum, emphasizing the need to expand and standardize the diagnostic criteria of the disease.