A Long-Term (41 Years) Radiographic Follow-Up Study of the Onset and Development of a Jawbone Lesion in a Patient With Gnathodiaphyseal Dysplasia.

Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbones. This report describes the long-term radiographic follow-up study of jaw lesions in a GDD-affected woman of >40 years of age from the age of one onward. At three years of age, widening of the diaphyseal cortices in the femur and radius was observed, although no symptoms were observed in the jawbones. At nine years of age, we observed a slightly sclerotic appearance in the alveolar and jawbones adjacent to the permanent tooth roots. After completion of the secondary dentition at 14 years of age, increased density of the sclerotic mass was clearly observed. Although the etiology and pathogenesis are uncertain, this study observed that the onset of the jawbone lesion had already appeared after the mixed dentition stage, and the sclerotic mass developed with age.