title: Oral and craniofacial findings in Fabry's disease: a report of 13 patients.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Given the high prevalence of oral and dental abnormalities, we recommend a thorough stomatologic evaluation of these patients.
authors.affiliation: National Institute of Dental and Craniofacial Research, National Insitutes of Health, Bethesda, MD, USA. Epi.bacclore@unc.edu
authors.forename: L
authors.initials: L
authors.lastname: Baccaglini
authors.forename: R
authors.initials: R
authors.lastname: Schiffmann
authors.forename: M T
authors.initials: MT
authors.lastname: Brennan
authors.forename: H E
authors.initials: HE
authors.lastname: Lancaster
authors.forename: A B
authors.initials: AB
authors.lastname: Kulkarni
authors.forename: J S
authors.initials: JS
authors.lastname: Brahim
mesh_terms: D000328:Adult; D000794:Angiokeratoma / Q000209:etiology; D002508:Cephalometry; D003560:Cysts / Q000209:etiology; D000795:Fabry Disease / Q000150:complications*; D006801:Humans; D007575:Jaw, Edentulous / Q000209:etiology; D008297:Male; D008310:Malocclusion / Q000209:etiology; D008443:Maxillary Sinus; D008875:Middle Aged; D009059:Mouth Diseases / Q000209:etiology*; D009061:Mouth Mucosa / Q000473:pathology; D010254:Paranasal Sinus Diseases / Q000209:etiology*; D011378:Prognathism / Q000209:etiology; D012878:Skin Neoplasms / Q000209:etiology; D014987:Xerostomia / Q000209:etiology