Advertisement

European Archives of Paediatric Dentistry

, Volume 17, Issue 1, pp 65–70 | Cite as

Orofacial manifestations and dental considerations in association with Varadi–Papp syndrome: report of a rare case

  • N. ChhabraEmail author
  • A. Chhabra
  • S. Tandon
Case Report
  • 133 Downloads

Abstract

Varadi–Papp syndrome or oral–facial–digital syndrome type VI (OFDS VI) is a rare, autosomal recessive disorder characterised by a specific congenital malformation of the cerebellum and a broad spectrum of other phenotypic findings. It is distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Treatment for such patients is often considered challenging due to the presence of intellectual disability, hypotonia, and abnormal respiratory pattern in these patients. The present article reports the oral and systemic manifestations of a 5-year-old female patient having Varadi–Papp syndrome, considerations taken in her dental treatment and the successful management performed. The patient was followed up every 3 months for 2 years, to evaluate plaque control and to continue with the plaque control regimen. Periodic oral examinations and maintenance of good oral hygiene helped to improve the quality of life of the child. This case illustrates the favourable treatment outcomes in a Varadi–Papp syndrome patient. Furthermore, the need for periodic oral examinations and maintenance of good oral hygiene to prevent any complications in such patients has been highlighted.

Keywords

Polydactyly YSGG Laser Local Analgesia Joubert Syndrome Good Oral Hygiene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgement

I would like to express my deep sense of gratitude and indebtedness to my staff members and colleagues for an unwavering support though out my work.

Supplementary material

40368_2015_193_MOESM1_ESM.doc (26 kb)
Supplementary material 1 (DOC 26 kb)

References

  1. Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis. 2010;5:1750–72.CrossRefGoogle Scholar
  2. Chodirker BN, Shah NS, Bunge MK, Reed MH. Another case of Varadi- Papp syndrome with a molar tooth sign. Am J Med Genet A. 2005;136A(4):416–7.CrossRefPubMedGoogle Scholar
  3. Friede RL, Bolthauser E. Uncommon syndromes of cerebellar vermis aplasia: joubert syndrome. Dev Med Child Neurol. 1978;20:758–63.CrossRefPubMedGoogle Scholar
  4. Genovese MD, Olivi G. Laser in paediatric dentistry: patient acceptance of hard and soft tissue therapy. Eur J Paediatr Dent. 2008;9(1):13–7.PubMedGoogle Scholar
  5. Gleeson JG, Keeler LC, Parisi MA, et al. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 2004;125:125–34.CrossRefGoogle Scholar
  6. Habre W, Sims C, D’Souza M. Anaesthetic management of children with Joubert syndrome. Paediatr Anaesth. 1997;7(3):251–3.CrossRefPubMedGoogle Scholar
  7. Munke M, McDonald DM, Cronister A, et al. Oral-facial-digital syndrome type VI (Varadi Syndrome): further clinical delineation. Am J Med Genet. 1990;35:360–9.CrossRefPubMedGoogle Scholar
  8. Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet. 2007;15:511–21.CrossRefPubMedGoogle Scholar
  9. Patra S, Purkait R, Samanta T, Bhadra R. Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: report of a rare case. Ann Indian Acad Neurol. 2013;16:289–91.PubMedCentralCrossRefPubMedGoogle Scholar
  10. Valente EM, Logan CV, Mougou-Zerelli S, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert Meckel and related syndromes. Nat Genet. 2010;42:619–25.PubMedCentralCrossRefPubMedGoogle Scholar
  11. Varadi V, Papp Z. 25 years’ history of Varadi Papp syndrome (orofaciodigital syndrome VI). Orv Hetil. 2005;146:2017–22.PubMedGoogle Scholar
  12. Varadi V, Szabo L, Papp Z. Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. J Med Genet. 1980;17:119–22.PubMedCentralCrossRefPubMedGoogle Scholar

Copyright information

© European Academy of Paediatric Dentistry 2015

Authors and Affiliations

  1. 1.Department of Pedodontics and Preventive DentistryMaulana Azad Institute of Dental SciencesDelhiIndia
  2. 2.Department of Dental SurgerySafdarjang HospitalDelhiIndia
  3. 3.Department of PeriodonticsMaulana Azad Institute of Dental SciencesDelhiIndia

Personalised recommendations