Johanson-Blizzard syndrome: dental findings and management

J Contemp Dent Pract. 2013 May 1;14(3):544-7. doi: 10.5005/jp-journals-10024-1359.


Aim: Oral rehabilitation of a child with Johanson-Blizzard syndrome (JBS).

Background: JBS is an extremely rare inherited disorder characterized by unusually small nose that appears 'beak shaped' due to the absence (aplasia) or underdevelopment (hypoplasia) of the nostrils (nasal alae), abnormally small, malformed primary (deciduous) teeth and misshapen or absent secondary (permanent) teeth, hearing disorder, hypothyroidism, dwarfism, malabsorption and mental retardation. It is sometimes described as a form of ectodermal dysplasia.

Case report: Oral findings in JBS are very obscure in the literature. The present report describes oral findings in an 8 years old boy with JBS and his oral rehabilitation.

Conclusion: JBS has an emotional consequence for the affected individuals at early ages. Oral rehabilitation in this case had a very positive impact on the child's mind.

Clinical significance: Early identification and treatment of this disease is of great importance to rehabilitate the patient on functional, esthetic and psychological front.

Publication types

  • Case Reports

MeSH terms

  • Anodontia / diagnosis
  • Anus, Imperforate / diagnosis*
  • Cheilitis / diagnosis*
  • Child
  • Crowns
  • Dental Caries / diagnosis*
  • Denture, Partial, Fixed
  • Ectodermal Dysplasia / diagnosis*
  • Facies
  • Growth Disorders / diagnosis*
  • Hearing Loss, Sensorineural / diagnosis*
  • Humans
  • Hypothyroidism / diagnosis*
  • Incisor / abnormalities
  • Intellectual Disability / diagnosis*
  • Male
  • Nose / abnormalities*
  • Pancreatic Diseases / diagnosis*
  • Pulpotomy / methods
  • Space Maintenance, Orthodontic / instrumentation
  • Tongue / abnormalities*

Supplementary concepts

  • Johanson Blizzard syndrome