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; received in revised form 30 September 2009; accepted 1 October 2009. published online 07 December 2009.

Abstract 

Johanson–Blizzard syndrome is a hereditary disorder extremely rare. The characteristic features include aplastic alae nasi, midline ectodermal scalp defects, deafness, dental abnormalities and malabsorption related to pancreatic exocrine deficiency. This paper presents a case of an 18-year-old patient with Johanson–Blizzard syndrome and emphasizes the importance of knowledge of the potential anaesthetic concerns of this syndrome for providing appropriate treatment for these patients.

Keywords: Johanson–Blizzard syndrome, Oral manifestations, Abnormalities

 

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