Oral findings of DiGeorge syndrome: Two autopsy cases of siblings with delayed dentition.

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We described the histopathological and morphometrical findings of oromaxillary region of two autopsy cases of siblings with DiGeorge syndrome (DGS). At the time of the autopsy, case 1 (11-month-old male) showed aplasia of the thymus and hypoplasia of the parathyroid gland, while case 2 (2-year-9-month-old female) showed hypoplasia of both the thymus and the parathyroid gland. In both cases, mucocutaneous lesions due to varicella, hyperterolism, low-set malformed ear, ill-developed jaws and delayed dentition were observed.<BR>Histopathologically, these cases revealed reduction of bone formation and absorption (remodeling activity) in the mandible and slight hypoplasia of enamel and dentin of the teeth with dental caries. The tongue revealed hypoplasia of papillae especially marked at the base. Inflammatory infiltration was rather slight in the many areas of oral mucosa ulceration.<BR>From the above-mentioned findings, hypoparathyroidism and immunological deficiency superimposed in developmental abnormalities were considered to characterize the pathological features of the hard and soft tissues of the oromaxillary region.