The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report

Abstract

Background

DiGeorge syndrome (DG) is a genetic disorder associated with 22q11 deletion. It involves various phenotypes, including craniofacial abnormalities, congenital heart disorders, endocrine dysfunction, cognitive deficits, and psychiatric disorders. Cases commonly involve multiple anomalies. However, little is known about the condition of the oral cavity in this disorder, although palate fissure, abnormal mandible, malocclusion, and tooth hypoplasia have been identified. We aimed to determine the odontological features of patients with 22q11.2 microdeletion, in relation to gingival health and oral hygiene. We report the systemic manifestations of nine patients and results of oral evaluation of two patients. In the oral examination, oral hygiene and gingivitis were evaluated.

Case Presentation

In terms of the systemic manifestations, we found high frequencies of low weight and height at birth. In terms of the oral manifestations, both examined patients presented malocclusion, enamel hypoplasia, dental crowding, anodontia, and healthy periodontium.

Conclusion

Although DG has been documented to involve periodontium disease, the patients in this study exhibited more dental manifestations such as enamel defects, misalignment between the teeth and the two dental arches, anodontia, and dental crowding. As such, a multidisciplinary approach combining dentistry and healthcare is recommended in this case.

Keywords:

• DiGeorge syndrome 22q11.2 deletion
• oral manifestations
• facial dysmorphism
• case report

Abbreviations

HIRA, HIRA protein; TBX1, T-box 1 protein; COMT, Cathecol-O-methyltransferase; CRKL, Recombinant Human Crkl protein; PA, pharyngeal arches; CA, craniofacial abnormalities; DGS, DiGeorge syndrome; IR, Interquartile Range.

Data Sharing Statement

The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.

Ethics Approval and Consent to Participate

This research was conducted in accordance with the Declaration of Helsinki. The subjects and his/her parents provided written informed consent to the reporting of these cases (including the publication of images). Information revealing the subject’s identity was not included in the manuscript. The patients were identified by number and not by his/her real name.

Consent for Publication

All the images and patient’s material presented in this study have consented to publication and available to see upon request.

Acknowledgment

We thank the patient and his parents for agreeing to the publication of this report. We also thank the people who have contributed to this study’s development and execution and Tobias Yates for his language editing.

Author Contributions

All authors made substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data; took part in drafting the article or revising it critically for important intellectual content; agreed to submit to the current journal; gave final approval of the version to be published; and agree to be accountable for all aspects of the work.

Disclosure

The authors have no conflicts of interest to declare.

Additional information

Funding

All forms of support and funding for study design, data collection, data analysis and manuscript writing were provided by authors’ employers (Universidad Icesi and Fundación Valle del Lili).