Oral findings in DiGeorge syndrome.
An 8-year-old female with DiGeorge syndrome was referred for dental treatment. Previous medical examination had disclosed heart and aortic arch malformations, hypoparathyroidism and an impaired cellular immune response. At dental examination, hypertelorism, a short philtrum, low-set malformed ears, a cleft palate and severe enamel hypoplasia were noted. The chronological distribution of enamel defects corresponded to the patients' age at known episodes of profound hypocalcemia occurring during treatment with vitamin D. Branchial dysembryogenesis should be considered in any case with dental changes related to hypoparathyroidism.
D002648:Child; D002972:Cleft Palate / Q000473:pathology; D003744:Dental Enamel Hypoplasia / Q000473:pathology; D004062:DiGeorge Syndrome / Q000473:pathology*; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism / Q000473:pathology; D007153:Immunologic Deficiency Syndromes / Q000473:pathology*; D009059:Mouth Diseases / Q000473:pathology*; D014076:Tooth Diseases / Q000473:pathology*