title: Case report: Rutherfurd syndrome associated with Marfan syndrome.
abstract: BACKGROUND
  Rutherfurd syndrome is a rare genetic disorder that is primarily characterised by the classical triad of gingival fibromatosis, delayed tooth eruption and corneal dystrophy. Associated features of the condition include abnormally shaped teeth, mental retardation and aggressive behaviour.
  
  
  METHODS
  His Consultant Clinical Geneticist referred a 2-year-old boy to the Dept. of Paediatric Dentistry at Manchester Dental Hospital. The child and his father had a diagnosis of Rutherfurd Syndrome; a rare autosomal-dominant condition featuring corneal dystrophy, gingival hypertrophy, abnormally shaped teeth and delayed eruption. The only erupted teeth were 52, 71 and 81. The patient also suffers from features of Marfan syndrome, a condition he has inherited from his mother.
  
  
  CONCLUSIONS
  Preventive advice was provided and the patient was placed on regular review. By the age of 4 years, 52, 61, 72, 71 and 81 were the only teeth present clinically. Maxillary and mandibular dentures were provided, which he refused to wear.
  
  
  RESULTS
  At age 8 years, 31 and 41 were erupted lingual to the primary incisors. No other permanent teeth had erupted. Radiographs revealed failure of eruption of multiple primary and permanent teeth. The second premolars had formed above the unerupted mandibular primary second molars. The patient continued to refuse any intervention. Treatment options discussed included overdentures and /or removal of primary teeth and exposure of permanent teeth.
  
  
  CONCLUSIONS
  This case has presented a rare syndrome with two important dental features, namely gingival hyperplasia and failure of eruption. The case has a long term follow up of 6 years and has a first time association to Marfan syndrome. It also highlights the importance of family history and how it can affect the attitude of the child towards dental treatment.
authors.affiliation: Dept. Paediatric Dentistry, University Dental Hospital of Manchester, England. taiyub_raja@hotmail.com
authors.forename: T A
authors.initials: TA
authors.lastname: Raja
authors.forename: S
authors.initials: S
authors.lastname: Albadri
authors.forename: C
authors.initials: C
authors.lastname: Hood
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000628:therapy; D000848:Anodontia / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis; D003829:Denture, Partial; D005351:Fibromatosis, Gingival / Q000175:diagnosis*; D005500:Follow-Up Studies; D006801:Humans; D007576:Jaw, Edentulous, Partially / Q000000981:diagnostic imaging / Q000534:rehabilitation*; D008297:Male; D008382:Marfan Syndrome; D011859:Radiography; D013577:Syndrome; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging / Q000601:surgery; D014097:Tooth, Unerupted / Q000000981:diagnostic imaging / Q000601:surgery*; D016312:Treatment Refusal
references.citation: Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Apr;103(4):521-7
references.pmid: 17395066
references.citation: Int J Paediatr Dent. 2004 Jan;14(1):78-85
references.pmid: 14706033
references.citation: J Periodontol. 2005 Jan;76(1):3-10
references.pmid: 15830631
references.citation: J Clin Pediatr Dent. 2000 Fall;25(1):41-6
references.pmid: 11314351
references.citation: J Clin Periodontol. 2002 Sep;29(9):871-4
references.pmid: 12423302
references.citation: J Periodontol. 2006 May;77(5):753-64
references.pmid: 16671866
references.citation: Quintessence Int. 2000 Jun;31(6):415-8
references.pmid: 11203959
references.citation: J Oral Maxillofac Surg. 1988 May;46(5):415-20
references.pmid: 3163377
references.citation: Br Med J. 1931 Jul 4;2(3678):9-11
references.pmid: 20776268
references.citation: Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002 May;93(5):564-72
references.pmid: 12075206
references.citation: Int J Paediatr Dent. 2005 Jul;15(4):294-302
references.pmid: 16011789
references.citation: Eur J Orthod. 2006 Dec;28(6):535-40
references.pmid: 17041084