Orphanet Journal of Rare Diseases | Comparative Study of Dentomaxillofacial Abnormalities in Pediatric Populations from Africa and Europe

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This study presents the first systematic comparison of dentomaxillofacial (DOMF) abnormalities in two pediatric cohorts with rare bone diseases from East Africa and Southern Europe, revealing significant differences in gingival health, dental caries, fluorosis, and malocclusion between the regions. The findings provide critical insights for global oral phenotyping studies in rare bone disorders.

 

Literature Overview
The article titled 'Dentomaxillofacial abnormalities associated with rare bone disease in two pediatric populations from southern Europe and East Africa', published in Orphanet Journal of Rare Diseases, summarizes the DOMF abnormalities in 149 children diagnosed with rare bone diseases from East Africa (Tanzania) and Southern Europe (Spain). Through clinical evaluation and bone pathology classification, the study found that East African children exhibited poorer gingival health, higher prevalence of dental fluorosis, and crossbite, while Southern European children showed more severe deep overbite and open bite. DOMF abnormalities such as tooth agenesis, malocclusion, and gingival inflammation are closely linked to cellular metabolism and developmental defects in bone diseases. Additionally, pathological fractures related to bone disease were significantly more common in the developmental or degenerative bone disease (DGD) subgroup across both regions. The study revisits the developmental biology connections between DOMF abnormalities and bone disease, highlights the heterogeneity of oral phenotypes among different bone disease subgroups, and notes that DOMF abnormalities are often underdiagnosed and untreated in low-resource settings, affecting children's overall health and quality of life.

Background Knowledge
Dentomaxillofacial (DOMF) abnormalities refer to developmental lesions affecting teeth, jaws, and occlusion, commonly associated with congenital bone disorders such as mucopolysaccharidosis, osteogenesis imperfecta, and achondroplasia. Studies indicate that teeth and bones share common embryological origins, particularly the role of neural crest cells in craniofacial development. These DOMF abnormalities, including hypodontia, malocclusion, and periodontal disease, can significantly impair mastication, speech, and facial growth. Despite their prevalence in rare bone diseases, DOMF abnormalities are often overlooked in low-resource settings, leading to delayed treatment. This study systematically analyzes DOMF manifestations in two geographic populations, emphasizing the combined influence of environmental factors (e.g., fluoride levels in drinking water) and hereditary bone diseases on DOMF presentation. It also recommends integrating DOMF assessments into standard clinical evaluations of bone disorders, especially in regions lacking genetic diagnostic capabilities.

 

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Methods and Experiments
This cross-sectional study was conducted at Mount Meru Regional Referral Hospital in Tanzania (MMRRH, n=60) and Sant Joan de Déu Hospital in Spain (HSJD, n=89). Participants were aged 6–18 years, and those with trauma-, infection-, or intellectual disability-related bone diseases were excluded. Clinical oral assessments included periodontal indices, caries indices, dental fluorosis, and malocclusion analysis. Skeletal abnormalities were classified using ICD-9 codes. Statistical analysis involved chi-square tests, t-tests, or Mann-Whitney U tests to evaluate intergroup differences.

Key Findings and Perspectives

• East African children (MMRRH) showed significantly worse gingival health compared to Spanish children (HSJD) (p=0.033).
• East African cohort had a significantly higher rate of dental agenesis (36.7% vs 10.1%, p<0.001).
• Dental fluorosis was observed in 26.7% of East African children, predominantly in the developmental or metabolic bone disease (DCM) group.
• Malocclusion, particularly crossbite and Class III malocclusion, was more prevalent in the East African group.
• Developmental or degenerative bone disease (DGD) group in the Southern European cohort (HSJD) showed more severe deep overbite and open bite.
• Pathological fractures were significantly more common in the DGD group than in the DCM group, regardless of geographic origin (p<0.001).
• Poor oral health in East African children may be linked to high fluoride levels in drinking water and limited access to dental care.
• Genetic diagnosis and imaging assessments were more comprehensive in the Southern European cohort, whereas molecular and genetic testing resources were limited in the East African group.

Implications and Future Directions
This study is the first to systematically compare the relationship between bone disease and DOMF abnormalities across different geographic regions, highlighting the phenotypic heterogeneity influenced by genetic and environmental factors. It recommends incorporating DOMF assessments into routine clinical evaluations for rare bone diseases, especially in resource-limited settings. Future research should integrate genomics and imaging data to further explore the molecular mechanisms underlying DOMF abnormalities.

 

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Conclusion
Through systematic analysis of DOMF abnormalities in two pediatric cohorts with rare bone diseases from East Africa and Southern Europe, this study identified significant geographic influences on DOMF presentation. Gingivitis, fluorosis, and crossbite were more common in East African children, while Southern European children showed more severe deep overbite and open bite. The study underscores the clinical relevance of DOMF abnormalities in bone disease and suggests that in areas lacking genetic diagnostic resources, these oral features may serve as auxiliary diagnostic indicators. These findings offer important reference for global oral health management, early intervention, and diagnostic strategy optimization in rare bone diseases.

 

Lluís Brunet-Llobet, Elias Isaack Mashala, Anastasiya Lapitskaya, María Dolores Rocha-Eiroa, and Jaume Miranda-Rius. Dentomaxillofacial abnormalities associated with rare bone disease in two pediatric populations from southern Europe and East Africa. Orphanet Journal of Rare Diseases.