Journal of Indian Academy of Oral Medicine and Radiology

CASE REPORT
Year
: 2010  |  Volume : 22  |  Issue : 4  |  Page : 225--228

Johanson-Blizzard Syndrome: A Rare Case Report


R Sudarshan1, Rajeshwari G Annigeri2, Savitha S Shettar2 
1 Department of Oral Medicine and Radiology, College of Dental Sciences and Hospital, Davangere Karnataka, India
2 Department of Oral Medicine and Radiology, College of Dental Sciences and Hospital, Davangere, Karnataka, India

Correspondence Address:
R Sudarshan
Department of Oral Medicine and Radiology, College of Dental Sciences and Hospital Davangere, Karnataka
India

Several of the anatomic malformations are difficult to diagnose. A group of population has characteristic anatomic changes but even in this group the diagnosis may not be considered, if one or more of the major features are present. The Johanson-Blizzard syndrome has distinctive craniofacial changes that should be easily recognized. It is an autosomal recessive condition characterized by typical facies, exocrine Pancreatic insufficiency, hypothyroidism and group of other features like oligodontia, growth retardation, bilateral hearing loss and midline scalp defects. A 9-year-old boy with Johanson-Blizzard syndrome is described in this article along with oral manifestation and less emphasized feature cafe-au-fait spots.


How to cite this article:
Sudarshan R, Annigeri RG, Shettar SS. Johanson-Blizzard Syndrome: A Rare Case Report.J Indian Acad Oral Med Radiol 2010;22:225-228


How to cite this URL:
Sudarshan R, Annigeri RG, Shettar SS. Johanson-Blizzard Syndrome: A Rare Case Report. J Indian Acad Oral Med Radiol [serial online] 2010 [cited 2022 Nov 29 ];22:225-228
Available from: http://www.jiaomr.in/article.asp?issn=0972-1363;year=2010;volume=22;issue=4;spage=225;epage=228;aulast=Sudarshan;type=0