Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant disorder characterized by florid osseous dysplasia (FOD) in the jaws, bone fragility, and diaphyseal cortical thickening and bowing of long bones. We present a family with previously undiagnosed GDD. The disorder was identified by the characteristic gnathic and skeletal manifestations in the father. Clinical and radiological examination of the patient’s son also revealed the characteristic features of GDD. Gene sequencing revealed a novel mutation (c. 1067 G>A, p. Cys356Tyr) in the ANO5 gene, the gene that is causative for GDD. This mutation was predicted to be detrimental by computational analyses and by structural modeling of the protein. The implications for recognition and management of this disease are discussed.
Radiation therapy (RT) is a component of the treatment of patients with head and neck malignancies. This therapy may damage the nearby carotid arteries, thereby initiating or accelerating the atherosclerotic process (atheroma formation). Dentists treating patients who have been irradiated should examine the patient's panoramic radiograph for evidence of atheroma-like calcifications, which appear 1.5 to 2.5 cm posterior and inferior to the angle of the mandible. Patients with evidence of such lesions should be referred to their primary care physician with the suggestion that an ultrasound examination of the carotid arteries is indicated.
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