International Journal of Pediatric Otorhinolaryngology Extra
Volume 5, Issue 4 , Pages 180-182 , December 2010

Johanson–Blizzard syndrome—A case study of oral and systemic manifestations

Received 14 August 2009 ,Revised 30 September 2009 ,Accepted 1 October 2009.

References 

  1. Zenker M, Mayerle J, Reis A, Lerch M. Genetic basis and pancreatic biology of Johanson–Blizzard syndrome. Endocrinol. Metab. Clin. N. Am. 2006;35:243–253
  2. Johanson A, Blizzard R. A syndrome of congenital aplasia of the alae nasi, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. J. Pediatr. 1971;79(6):982–987
  3. Zenker M, et al. Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson–Blizzard syndrome). Nat. Genet. 2005;37(12):1345–1350
  4. Mcheik JN, Hendiri L, Vabres P, Berthier M, Cardona J, Bonneau D, et al. Syndrome de Johanson–Blizzard: à propôs d’un cas. Arch. Pediatr. 2002;9:1163–1165
  5. Prater JF, D’Addio K. Johanson–Blizzard syndrome—a case study, behavioral manifestations, and successful treatment strategies. Biol. Psychiatry. 2002;51(6):515–517
  6. Vieira MW, Lopes VLGS, Teruya H, Guimarães-Lamonato L, Oliveira LCL, Costa CD. Síndrome de Johanson–Blizzard: importância do diagnóstico diferencial em pediatria. J. Pediatr. 2002;78(5):433–436
  7. Beraldo FB, Armani JHN, Londono E, Campos DP, Gonella HA. Reconstrução da Asa Nasal da Síndrome de Johanson Blizzard. Revista da Faculdade de Ciências Médicas de Sorocaba. 2005;7(4):15–17
  8. Fichter CR, Johnson GA, Braddock SR, Tobias JD. Perioperative care of the child with the Johanson–Blizzard syndrome. Paediatr. Anaesth. 2003;13(1):72–75
  9. Kulkarni ML, Shetty SK, Kallambella KS, Kulkarni PM. Johanson–Blizzard syndrome. Indian J. Pediatr. 2004;71(12):1127–1129

PII: S1871-4048(09)00060-4

doi: 10.1016/j.pedex.2009.10.002

International Journal of Pediatric Otorhinolaryngology Extra
Volume 5, Issue 4 , Pages 180-182 , December 2010