Objective. Fabry's disease is an X-linked metabolic disease caused by the deficiency of the lysosomal enzyme α-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.
|Original language||English (US)|
|Number of pages||5|
|Journal||Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics|
|State||Published - Oct 2001|
ASJC Scopus subject areas
- Oral Surgery