Figure 3

Radiographic and oro-dental features of Family 1. (A) Computerized tomography (CT) scan revealed intracranial calcifications in the parieto-occipital region in patient IV-6. (B) Clinical photograph of patient IV-4 showing alterations in the tooth shape, reduction of the enamel thickness and yellow and brown discoloration. Note the rough and pitted surface of enamel. Incisal notches were observed in the central incisors. (C) Dental radiographs illustrated absence of the normal, differential radiodensity between enamel and dentine, whilst periapical radiolucency’s and associated alveolar bone loss were consistent with loss of dental pulp vitality and associated periodontal involvement. (D) The histopathological analysis of the alveolar gingival tissue showed ectopic calcifications. (E) Macroscopic and (F) ground sections of an extracted left first molar revealed severe hypoplastic enamel with surface pitting. (G) Interglobular dentine of the circumpulpar dentine was observed, alongside normal dentine in some areas.