OBJECTIVE: Fabry's disease is an X-linked metabolic disease caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. The purpose of this study was to assess oral and craniofacial findings in a cohort of patients with Fabry's disease to facilitate recognition of this condition and early treatment of its manifestations. STUDY DESIGN: This is a case series describing oral and craniofacial findings of 13 male patients diagnosed with Fabry's disease. Data were collected by means of a standardized questionnaire, clinical examination, panoramic and cephalometric radiographs, and magnetic resonance imaging. RESULTS: A variety of abnormalities are described, including an increased prevalence of cysts/pseudocysts of the maxillary sinuses (PCMs) and the presence of maxillary prognathism. CONCLUSION: Given the high prevalence of oral and dental abnormalities, we recommend a thorough stomatologic evaluation of these patients.
OBJECTIVE:Fabry's disease is an X-linked metabolic disease caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. The purpose of this study was to assess oral and craniofacial findings in a cohort of patients with Fabry's disease to facilitate recognition of this condition and early treatment of its manifestations. STUDY DESIGN: This is a case series describing oral and craniofacial findings of 13 male patients diagnosed with Fabry's disease. Data were collected by means of a standardized questionnaire, clinical examination, panoramic and cephalometric radiographs, and magnetic resonance imaging. RESULTS: A variety of abnormalities are described, including an increased prevalence of cysts/pseudocysts of the maxillary sinuses (PCMs) and the presence of maxillary prognathism. CONCLUSION: Given the high prevalence of oral and dental abnormalities, we recommend a thorough stomatologic evaluation of these patients.