You are here

Article Text

Article menu
Download PDFPDF
Reminder of important clinical lesson
CASE REPORT
Dental management of a patient with 22q11.2 deletion syndrome (22q11.2DS)
  1. Mohammed Ali AlQarni1,
  2. Adel Alharbi2,
  3. Leena Merdad3
  1. 1Dental Department, King Abdullah Medical City, Mecca, Saudi Arabia
  2. 2Paediatric Dentistry Department, Al Noor Specialist Hospital, Makkah, Saudi Arabia
  3. 3Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia
  1. Correspondence to Dr Mohammed Ali AlQarni, M.alqarni{at}dr.com

Summary

22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes, with an incidence of approximately 1/2000–1/4000 live births; it is thought to be mainly attributable to a de novo deletion. The clinical phenotype of this syndrome is highly variable. Certain craniofacial and oral features are common to most patients with 22q11.2DS, including a high prevalence of dental caries; abnormalities of tooth shape, eruption and number; and enamel defects such as hypomineralisation and hypoplasia. This report focuses on the dental features and management of an 8-year-old boy with 22q11.2DS. Dental treatments were carried out under general anaesthesia. In summary, facial dysmorphism and common dental manifestations are typically noticeable in patients with this syndrome. Therefore, dentists need to be aware of the dental features of this condition in order to refer them to the adequate specialists. Cooperation among and experience with different specialties are mandatory to improve quality of life for patients with 22q11.2DS.

  • dentistry and oral medicine
  • endocrinology

https://doi.org/10.1136/bcr-2018-225765

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • Contributors MAA: contributed to conception, interpretation and drafted the manuscript. LM: participated in drafting and critically revised the manuscript. AA: contributed to conception and critically revised the manuscript. All authors gave final approval and agree to be accountable for all aspects of the work.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.