Oral Manifestations in 22q11 Deletion Syndrome

Adrián Curto Aguilera

Summary

Interstitial deletions of chromosome 22q11 are the most commonly seen microdeletions observed in humans, with a frequency of approximately 1:4000–1:8000 live births. It includes various syndromes such as DiGeorge and Cayler syndrome. Patients with the 22q11 deletion present various combinations of the following clinical features: congenital cardiac defects, characteristic facies, palate malformations, hypoparathyroidism, congenital hypocalcemia, immunodeficiency due to thymic hypoplasia, growth retardation and psychiatric problems. The etiology in the majority of patients is a 3-Mb recurrent deletion in region 22q11. The aim of the study were to examine and describe oral manifestations in individuals with 22q11 deletion syndrome and to analyze associations with medical conditions and the implications in dentist. A systematic search in October 2012 in PubMed, Scielo and Cochrane Library database with keywords: 22q11 deletion syndrome, oral health and dentist. Dental anomalies were registered in high numbers. Enamel disturbances were frequently seen. There were more hypomineralizations than hypoplasias. Hypoparathyroidism and/or hypocalcemia are not clear etiological factors for enamel disturbances and there were no major correlations between medical conditions and enamel disturbances. In 22q11 deletion syndrome the oral cavity is affected by anomalies in dental enamel, tooth shape, numbers of teeth and eruption. It is important to know that patients with 22q11 deletion syndrome often have congenital heart defects and immune problems.

KEY WORDS: 22q11 deletion syndrome, oral health, dentist.

How to cite this article

CURTO, A. A. Oral manifestations in 22q11 deletion syndrome. Int. J. Odontostomat., 7(2):225-228, 2013.