Investigation of oral health findings and genotype correlations in osteogenesis imperfecta

Osteogenesis imperfecta, a common genetic connective tissue disorder affecting bone with multisystemic implications, is caused by genomic alterations at various levels that disrupt the biosynthesis stages of collagen Type I. This study evaluated the intraoral and clinical findings of 43 OI cases in relation to genetic variants, aiming to contribute new insights into the roles of collagen and non-collagen genes in the oral-dental pathology of OI. Significant associations were found between OI variants and dental anomalies such as dentinogenesis imperfecta, enamel hypoplasia, taurodontism, and hypodontia. COL1A1/2-truncated variants were linked to atypical intercanine width, and midface hypoplasia correlated with reduced overjet and overbite. Bisphosphonate treatment, especially when initiated before age two, was associated with enamel hypoplasia. Oral hygiene habits, including brushing frequency and use of additional products, were linked to lower DMFT. In the OI group, significant associations were noted between Angle Class III malocclusion and reduced brushing frequency, as well as between deep palatal vault and increased DMFT. A correlation was also observed between maximum mouth opening and joint hypermobility. These findings, along with new dental observations related to non-collagen variants, shed light on the oral health challenges in OI patients. Our study underscores the importance of multidisciplinary collaboration between dentistry and medical genetics in understanding complex conditions like OI. The comprehensive analysis of oral and dental findings in OI cases is expected to inform future research and enhance clinical approaches to managing the dental challenges associated with this disorder.