Maxillary incisor enamel defects in individuals born with cleft lip/palate

Abstract

Cleft lip with or without cleft palate (CLP) is considered the most frequent congenital malformations of the head and neck, with cleft individuals exhibiting more chances of presenting abnormalities such as developmental defects of enamel (DDE). Matrix metallopeptidase 2 (MMP2) is a membrane-bound protein with collagen-degrading ability and has important roles in tooth formation and mineralization. The aim of this study was to evaluate the frequency, location, severity and extent of DDE found in the maxillary incisors for groups of individuals born with CLP, as well as understanding their relationship with the cleft side. Besides, this study addresses the hypothesis that DDE can be influenced by variation in the MMP2 genes (rs9923304). Individual samples, clinical history, intraoral photographs and panoramic radiographs were obtained from 233 patients under treatment at the Cleft Lip and Palate Service of the University Hospital Lauro Wanderley at the Federal University of Paraíba. Digital images were examined by the same evaluator using the Classification of Defects According to the Modified DDE Index, and then loaded into the Image Tool software, where two measurements were made: total area of the buccal surface (SA) and the area of the DDE (DA), obtaining the percentage of the surface area affected (%SAD) (ICC = 0.99). Genomic DNA was extracted from saliva samples from 124 participants. Genotyping was carried out using TaqMan chemistry for one marker in MMP2 (rs9923304). Statistical analyses were performed by The Jamovi Project software. The Shapiro-Wilk test was applied, followed by the Student’s t-test and the Mann-Whitney test. Chi-square and Fisher’s exact tests, and odds ratio (OR) with 95% confidence interval (CI) calculations were used to determine Hardy-Weinberg equilibrium and statistically significant differences with an alpha of 0.05. No significant differences in the prevalence and extent of enamel defects were found between male and female individuals born with CLP (p = 0.058256). The frequency of individuals presenting teeth with DDE, in relation to the cleft and non-cleft side, was statistically different (p <0.001; OR = 7.15, CI: 4.674> 7.151> 10.942). However, the averages of %SAD were similar (p = 0.18). The highest means of the %SAD were found in individuals with bilateral cleft lip with or without cleft palate (BCLP) when compared to individuals with unilateral cleft lip with or without cleft palate (UCLP), for the teeth inside (IA) and outside the cleft area (OA) (p <0.001). Regardless of the cleft side, individuals with BCLP were 7.85 times more likely to have more than one third of the tooth surface affected, showing more frequently defects in the three thirds (OA: p <0.001) (IA: p = 0.03), as well as a higher frequency of more than one type of defect (OA: p = 0.000358) (IA: p = 0.008016), whereas in UCLP, defects were isolated and restricted to only one third, more frequently, the incisal third (OA: p = 0.009) (IA: p = 0.001), with greater frequency of milder defects, such as demarcated (p = 0.02) and diffuse (p = 0.008) opacities. A higher frequency of the T allele, less common, was observed in the group of CLP individuals who had all the affected teeth or at least two teeth with %SAD greater than 20% (p = 0.019843). Our results suggest that MMP2 may have a role in the cases that presented DDE and genotyping rs9923304 could serve as the basis for a genomic approach to define risks for individuals born with CLP. Frequency and severity of DDE is strongly related to the CLP phenotype, since the highest values were found for BCLP. However, the extent of the DDE is independent of its relationship with the side of the cleft.

Molar‐incisor hypomineralization in a cohort of individuals born with cleft lip and palate

“…Clefts that involved the lip and palate had a higher frequency of MIH (77% and 71%). It was also found in studies that analysed other dental anomalies in individuals born with cleft lip and palate 26–29 . The lowest frequency of individuals affected with MIH was found in the individuals born with isolated cleft palate, although, the sample was smaller.…”

“…It was also found in studies that analysed other dental anomalies in individuals born with cleft lip and palate. [26][27][28][29] The lowest frequency of individuals affected with MIH was found in the individuals born with isolated cleft palate, although, the sample was smaller. This difference can be due to embryological differences when comparing cleft palate to the other cleft types.…”

Dental Anomalies and Genetic Polymorphisms as Predictors of Maxillofacial Growth in Individuals Born with Cleft Lip and Palate

“…MMP2 rs9923304 was also associated with enamel structural defects and morphological dental anomalies, which is also not surprising due to the role of MMP2 in tooth formation and mineralization (Bourd-Boittin et al 2005). We previously reported the association of MMP2 rs9923304 with talon cusp (Cavalcante et al 2021) and enamel defects in individuals born with cleft lip and palate (Lavôr et al 2020). These findings may suggest that maxillary growth, enamel defects, and dental shape anomalies in individuals born with cleft lip and palate are the result of alterations of the same genetic pathway.…”

Reabilitação oral de paciente com fissura labiopalatina: relato de caso

“…A frequência de agenesia dos incisivos laterais superiores varia de 42% a 64% em pacientes fissurados, dependendo da extensão e gravidade da fenda (Tomazoni et al, 2017e Martins et al, 2021. Também é comumente encontrado nesses pacientes erupção ectópica e defeitos de esmalte (Lavôr et al, 2020). No caso relatado o paciente apresentava fissura bilateral, sendo que os dois lados foram afetados pela ausência do germe dental e os incisivos centrais por alterações de esmalte.…”

“…Esses pacientes também apresentam diversas desordens morfológicas e funcionais, dentre elas complicações na audição, fonação, sucção, deglutição, mastigação, respiração, psicossociais e também dentárias, como má oclusão, anomalias de forma e número, que contribuem para estética e funcionalidade deficientes (Costa et al, 2021). Estima-se que pacientes com fissuras tem maior possibilidade de apresentar anomalias dentárias em comparação a pacientes que não possuem fissura (Lavôr et al, 2020).…”