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VOLUME 14 , ISSUE 3 ( May-June, 2013 ) > List of Articles

CASE REPORT

Johanson-Blizzard Syndrome: Dental Findings and Management

BP Santhosh, Preeti Jethmalani

Citation Information : Santhosh B, Jethmalani P. Johanson-Blizzard Syndrome: Dental Findings and Management. J Contemp Dent Pract 2013; 14 (3):544-547.

DOI: 10.5005/jp-journals-10024-1359

Published Online: 01-06-2013

Copyright Statement:  Copyright © 2013; Jaypee Brothers Medical Publishers (P) Ltd.


Abstract

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.

How to cite this article

Santhosh BP, Jethmalani P. Johanson- Blizzard Syndrome: Dental Findings and Management. J Contemp Dent Pract 2013;14(3):544-547.


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  2. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth and malabsorption. J Pediatr 1971 Dec;79(6):982-987.
  3. A syndrome of congenital hypoplasia of the alae nasi, situs inversus and severe hypoproteinemia in two siblings. J Pediatr 1981 Dec;99(6):932-934.
  4. Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. World J Gastroenterol 2008 Nov;14(44):6863-6866.
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