TY - JOUR
T1 - Oral and craniofacial findings in Fabry's disease
T2 - A report of 13 patients
AU - Baccaglini, Lorena
AU - Schiffmann, Raphael
AU - Brennan, Michael T.
AU - Lancaster, Henry E.
AU - Kulkarni, Ashok B.
AU - Brahim, Jaime S.
PY - 2001/10
Y1 - 2001/10
N2 - 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.
AB - 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.
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U2 - 10.1067/moe.2001.114833
DO - 10.1067/moe.2001.114833
M3 - Article
C2 - 11598576
AN - SCOPUS:0035487369
SN - 1079-2104
VL - 92
SP - 415
EP - 419
JO - Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics
JF - Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics
IS - 4
ER -