Prevalence and characteristics of oral and dental anomalies in Tunisian individuals with Down syndrome: a descriptive study

Abstract Backgrounds Trisomy 21 is the most common chromosomal abnormality and is clinically characterized by variable intellectual disability, typical facial dysmorphism, polymalformative syndrome, and oral and dental abnormalities, which are ten times more common in individuals with Down syndrome than in the general population. To date, no published studies have reported on dental and oral abnormalities associated with Down syndrome in Tunisia. This study aimed to estimate the prevalence of oral and dental anomalies among Tunisian individuals with Down syndrome (DS). Methods In a prospective descriptive cross-sectional study conducted over six months, from August 2020 to January 2021, we enrolled 100 Tunisian individuals with confirmed Down syndrome based on karyotype analysis and aged over 3 years. These patients were followed at the Department of Congenital and Hereditary Diseases of Charles Nicolle hospital in Tunisia. A comprehensive oral examination was performed by a dentist. Results Ninety-one percent of individuals with Down syndrome exhibited oral abnormalities. Among them, 11% had a high-arched palate, 31% presented with fissured lips, 7% had angular cheilitis, and 22% displayed macroglossia. The most prevalent dental anomalies were teeth displacement (67%) and dental crowding (50%). Size anomalies included microdontia (37%) and macrodontia (10%). Fifty-five percent of individuals with DS exhibited delayed eruption of deciduous dentition, while 63% had a malocclusion. Oral hygiene was inadequate in 90% of cases. Conclusions Oral abnormalities were highly prevalent in individuals with DS in our study, aligning with findings reported in the literature. Therefore, raising awareness among doctors, families, and caregivers of children with DS is crucial for early diagnosis and preventive interventions.

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Publication Details

Journal
Egyptian Journal of Medical Human Genetics
Published
2025-04-25
DOI
https://doi.org/10.1186/s43042-025-00700-z
Citations
2
Primary Topic
Oral and gingival health research
Type
article
Field-Weighted Citation Impact
4.04
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article

Prevalence and characteristics of oral and dental anomalies in Tunisian individuals with Down syndrome: a descriptive study

Yasmine Boukhalfa, Jihène Zaroui, Ridha Mrad, Lilia Kraoua et al.
2 citations
Egyptian Journal of Medical Human Genetics
Oral and gingival health research
4.04
article

Prevalence and characteristics of oral and dental anomalies in Tunisian individuals with Down syndrome: a descriptive study

Yasmine Boukhalfa, Jihène Zaroui, Ridha Mrad, Lilia Kraoua, Faouzi Mâazoul
article en
2 citations

Abstract

Abstract Backgrounds Trisomy 21 is the most common chromosomal abnormality and is clinically characterized by variable intellectual disability, typical facial dysmorphism, polymalformative syndrome, and oral and dental abnormalities, which are ten times more common in individuals with Down syndrome than in the general population. To date, no published studies have reported on dental and oral abnormalities associated with Down syndrome in Tunisia. This study aimed to estimate the prevalence of oral and dental anomalies among Tunisian individuals with Down syndrome (DS). Methods In a prospective descriptive cross-sectional study conducted over six months, from August 2020 to January 2021, we enrolled 100 Tunisian individuals with confirmed Down syndrome based on karyotype analysis and aged over 3 years. These patients were followed at the Department of Congenital and Hereditary Diseases of Charles Nicolle hospital in Tunisia. A comprehensive oral examination was performed by a dentist. Results Ninety-one percent of individuals with Down syndrome exhibited oral abnormalities. Among them, 11% had a high-arched palate, 31% presented with fissured lips, 7% had angular cheilitis, and 22% displayed macroglossia. The most prevalent dental anomalies were teeth displacement (67%) and dental crowding (50%). Size anomalies included microdontia (37%) and macrodontia (10%). Fifty-five percent of individuals with DS exhibited delayed eruption of deciduous dentition, while 63% had a malocclusion. Oral hygiene was inadequate in 90% of cases. Conclusions Oral abnormalities were highly prevalent in individuals with DS in our study, aligning with findings reported in the literature. Therefore, raising awareness among doctors, families, and caregivers of children with DS is crucial for early diagnosis and preventive interventions.

Egyptian Journal of Medical Human GeneticsVol. 26(1)
Hôpital La Rabta (TN), Hôpital Charles-Nicolle (TN)
Openalex Percentile: Top 5%
Oral and gingival health research
4.04
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