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

Lorena Baccaglini, Raphael Schiffmann, Michael T. Brennan, Henry E. Lancaster, Ashok B. Kulkarni, Jaime S. Brahim

Research output: Contribution to journalArticle

30 Scopus citations


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 languageEnglish (US)
Pages (from-to)415-419
Number of pages5
JournalOral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics
Issue number4
StatePublished - Oct 2001

ASJC Scopus subject areas

  • Surgery
  • Oral Surgery
  • Otorhinolaryngology
  • Dentistry(all)

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