Oral and craniofacial findings in Fabry's disease: A report of 13 patients

Objective. Fabry's disease is an X-linked metabolic disease caused by the d eficiency of the lysosomal enzyme alpha -galactosidase A. The purpose of th is study was to assess oral and craniofacial findings in a cohort of patien ts with Fabry's disease to facilitate recognition of this condition and ear ly treatment of its manifestations. Study design. This is a case series describing oral and craniofacial findin gs of 13 male patients diagnosed with Fabry's disease. Data were collected by means of a standardized questionnaire, clinical examination, panoramic a nd cephalometric radiographs, and magnetic resonance imaging. Results. A variety of abnormalities are described, including an increased p revalence of cysts/pseudocysts of the maxillary sinuses (PCMs) and the pres ence of maxillary prognathism. Conclusion. Given the high prevalence of oral and dental abnormalities, we recommend a thorough stomatologic evaluation of these patients.