title: Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI.
abstract: OBJECTIVE
  To assess oral manifestations of 17 patients with mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome.
  
  
  METHODS
  We performed comprehensive oral examinations in 17 patients with MPS VI. Panoramic radiographs was performed only in 14 patients. All patients were of Thai, Turkish, and Indian origins. Ten of 17 patients had enzyme replacement therapy (ERT) (Naglazyme). Most Turkish patients (10/11) were on ERT. The Thai and Indian patients have never had ERT.
  
  
  RESULTS
  Oral and radiographic examinations showed that hypoplastic mandibular condyles (93.3 %), malposition of unerupted teeth (92.9 %), large dental follicles (92.3 %), anterior open bite (86.7 %), maxillary constriction (56.3 %), and taurodontism (53.8 %) were common among patients with MPS VI. Newly recognized oral findings found in our study included taurodontism, long tooth roots, abnormal frenum, missing teeth, supernumerary teeth, and microdontia. Two patients who started ERT prior to 3 years old did not develope anterior open bite and one of them had mildly affected mandibular condyles.
  
  
  CONCLUSIONS
  Our study provides the most comprehensive study of oral manifestations in patients with MPS VI. Receiving ERT at very young ages may lessen craniofacial malformations including hypoplasic mandibular condyles and anterior open bite. Oral manifestations can be used as diagnostic features for MPS VI prior to assessing leukocyte ARSB activity or urinary excretion of dermatan sulfate.
authors: Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand, dentaland17@gmail.com.
authors: Piranit Nik
authors: PN
authors: Kantaputra
authors: Hülya
authors: H
authors: Kayserili
authors: Yeliz
authors: Y
authors: Güven
authors: Warissara
authors: W
authors: Kantaputra
authors: Mehmet C
authors: MC
authors: Balci
authors: Pranoot
authors: P
authors: Tanpaiboon
authors: Anusha
authors: A
authors: Uttarilli
authors: Ashwin
authors: A
authors: Dalal
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009059:Mouth Diseases / Q000175:diagnosis* / Q000473:pathology*; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology*; D055815:Young Adult
references: Orphanet J Rare Dis. 2010 Apr 12;5:5
references: 20385007
references: Int J Oral Maxillofac Surg. 1995 Apr;24(2):176-80
references: 7608587
references: Mol Genet Metab. 1998 Dec;65(4):282-90
references: 9889015
references: Cardiol Young. 2010 Jun;20(3):254-61
references: 20416133
references: Osteoarthritis Cartilage. 2009 Mar;17(3):346-53
references: 18760638
references: Oral Surg Oral Med Oral Pathol. 1984 Aug;58(2):169-75
references: 6435047
references: Clin Chim Acta. 2008 Aug;394(1-2):89-93
references: 18486607
references: Acta Cardiol. 2005 Feb;60(1):51-3
references: 15779852
references: Am J Med Genet A. 2012 Jul;158A(7):1798-800
references: 22684871
references: Oral Surg Oral Med Oral Pathol. 1993 May;75(5):659-60
references: 8488036
references: J Inherit Metab Dis. 2011 Dec;34(6):1183-97
references: 21744090
references: Am J Hum Genet. 1994 Mar;54(3):454-63
references: 8116615
references: Hum Mutat. 2007 Sep;28(9):897-903
references: 17458871
references: Mol Genet Metab. 2011 Dec;104(4):603-7
references: 21996138
references: Pediatr Radiol. 1987;17(5):409-14
references: 3114705
references: Metab Brain Dis. 2012 Jun;27(2):121-9
references: 22527994
references: Proc R Soc Med. 1962 Dec;55:1066-70
references: 14019505
references: Int J Paediatr Dent. 2008 Mar;18(2):78-83
references: 18237289
references: Development. 2004 Dec;131(24):6009-21
references: 15563523
references: Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006 May;101(5):632-7
references: 16632276
references: Clin Genet. 2004 Sep;66(3):208-13
references: 15324318
references: Pediatrics. 1976 Jan;57(1):111-22
references: 813180
references: Glycobiology. 2002 Sep;12(9):117R-25R
references: 12213784
references: Lab Invest. 2001 Sep;81(9):1319-28
references: 11555679
references: Quintessence Int. 2012 Mar;43(3):e32-8
references: 22299127
references: J Pediatr Rehabil Med. 2010;3(2):129-38
references: 20628554
references: Eur J Orthod. 2009 Feb;31(1):51-8
references: 19164412
references: Presse Med. 1963 Sep 25;71:1849-52
references: 14091597
references: Curr Opin Struct Biol. 2003 Oct;13(5):612-20
references: 14568617
references: Dentomaxillofac Radiol. 1992 Feb;21(1):45-9
references: 1397452