Oral Manifestations in Adolescents with Genetic Syndromes: A Retrospective Cross-Sectional Study

<b>Background/Objectives</b>: Few studies have comprehensively examined dental anomalies in adolescents with genetic syndromes. This study aimed to assess their prevalence, types, and clinical patterns in a diverse sample of genetically confirmed cases. <b>Methods</b>: We conducted a retrospective cross-sectional study of 213 patients aged 12 to 18 years with various genetic syndromes, using clinical data originally collected between 2011 and 2014 at a tertiary center. Clinical examinations were complemented by radiographs when available. Anomalies were categorized by type, and a disproportionality analysis (Rate of Occurrence Ratio, ROR) quantified risk relative to syndrome representation. <b>Results</b>: Dental anomalies were present in 68% of adolescents. The most common findings were hypodontia, taurodontism (9%), and enamel hypoplasia (8%). Nearly half of the patients exhibited combined patterns, with hypodontia-taurodontism as the most characteristic combination (14%). Prevalence was particularly high in trisomy-based (80%) and osteogenesis-related (100%) syndromes. Down syndrome showed the strongest association (ROR 3.95; 95% CI: 2.15-7.25), while some conditions such as Turner, Ehlers-Danlos, and Tuberous sclerosis displayed significantly lower rates. <b>Conclusions</b>: Dental anomalies are both highly prevalent and patterned in adolescents with genetic syndromes. Their co-occurrence and specificity suggest that they may serve as useful diagnostic markers in syndromic evaluation.

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Journal
Journal of Clinical Medicine
Published
2025-10-13
DOI
https://doi.org/10.3390/jcm14207217
Primary Topic
Oral and gingival health research
Type
article
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article

Oral Manifestations in Adolescents with Genetic Syndromes: A Retrospective Cross-Sectional Study

Raluca Ortensia Cristina Iurcov, Ruxandra Ilinca Matei, Abel Emanuel Moca, Rahela Tabita Moca et al.
Journal of Clinical Medicine
Oral and gingival health research
article

Oral Manifestations in Adolescents with Genetic Syndromes: A Retrospective Cross-Sectional Study

Raluca Ortensia Cristina Iurcov, Ruxandra Ilinca Matei, Abel Emanuel Moca, Rahela Tabita Moca, Ioan Andrei Țig, Adriana Ţenţ
article en

Abstract

<b>Background/Objectives</b>: Few studies have comprehensively examined dental anomalies in adolescents with genetic syndromes. This study aimed to assess their prevalence, types, and clinical patterns in a diverse sample of genetically confirmed cases. <b>Methods</b>: We conducted a retrospective cross-sectional study of 213 patients aged 12 to 18 years with various genetic syndromes, using clinical data originally collected between 2011 and 2014 at a tertiary center. Clinical examinations were complemented by radiographs when available. Anomalies were categorized by type, and a disproportionality analysis (Rate of Occurrence Ratio, ROR) quantified risk relative to syndrome representation. <b>Results</b>: Dental anomalies were present in 68% of adolescents. The most common findings were hypodontia, taurodontism (9%), and enamel hypoplasia (8%). Nearly half of the patients exhibited combined patterns, with hypodontia-taurodontism as the most characteristic combination (14%). Prevalence was particularly high in trisomy-based (80%) and osteogenesis-related (100%) syndromes. Down syndrome showed the strongest association (ROR 3.95; 95% CI: 2.15-7.25), while some conditions such as Turner, Ehlers-Danlos, and Tuberous sclerosis displayed significantly lower rates. <b>Conclusions</b>: Dental anomalies are both highly prevalent and patterned in adolescents with genetic syndromes. Their co-occurrence and specificity suggest that they may serve as useful diagnostic markers in syndromic evaluation.

Journal of Clinical MedicineVol. 14(20)
University of Oradea (RO)
Openalex Percentile: Top 53%
Oral and gingival health research
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Oral Manifestations in Adolescents with Genetic Syndromes: A Retrospective Cross-Sectional Study — Raluca Ortensia Cristina Iurcov, Ruxandra Ilinca Matei, et al. · Journal of Clinical Medicine (2025) | TGRS Research Map | TGRS