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Quintessence Publishing: Journals: QI
Quintessence International

Edited by Eli Eliav

ISSN 0033-6572 (print) • ISSN 1936-7163 (online)

July/August 2010
Volume 41 , Issue 7

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Dental Aspects In Patients With DiGeorge Syndrome

Okan Toka, Dr Med/Matthias Karl, PD Dr Med Dent/Sven Dittrich, Prof Dr Med/Stefan Holst, PD Dr Med Dent/Alexandra Holst, PD Dr Med Dent

Pages: 551556
PMID: 20614041

DiGeorge syndrome, which is caused by a microdeletion of 1.5 to 3.0 megabases on the long arm of chromosome 22, has an incidence of approximately 1:4,000 to 1:5,000 live births. The phenotypic spectrum of this disorder includes congenital heart defects, immunodeficiency due to thymic hypoplasia or aplasia, transient or permanent hypocalcemia due to parathyroid hypoplasia or aplasia, developmental retardation, and psychiatric disorders. Dental aspects in these patients include skeletal malformations, velopharyngeal insufficiency with or without cleft palate, small mouth, and hypotonus orofacial musculature, as well as impaired salivary flow. Enamel aberrations related to hypocalcemia may result in a higher frequency of dental caries. Based on a series of five patients, the medical and dental aspects that have to be considered in the care of patients with DiGeorge syndrome are presented. (Quintessence Int 2010;41:551556)

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