The Indian Journal of Pediatrics

, Volume 71, Issue 12, pp 1127–1129

Johanson-Blizzard syndrome

  • M. L. Kulkarni
  • S. K. Shetty
  • K. S. Kallambella
  • P. M. Kulkarni
Clinical Brief

DOI: 10.1007/BF02829829

Cite this article as:
Kulkarni, M.L., Shetty, S.K., Kallambella, K.S. et al. Indian J Pediatr (2004) 71: 1127. doi:10.1007/BF02829829

Abstract

Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. café-aulait spots.

Key words

Johanson-Blizzard syndromeEctodermal dysplastic disorderAutosomal recessive

Copyright information

© Dr. K C Chaudhuri Foundation 2004

Authors and Affiliations

  • M. L. Kulkarni
    • 1
  • S. K. Shetty
    • 1
  • K. S. Kallambella
    • 1
  • P. M. Kulkarni
    • 1
  1. 1.Department of PediatricsJagadguru Jayadeva Murugarajendra Medical CollegeDavangereIndia
  2. 2.Karnataka StateIndia