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Related Experiment Videos

Johanson--blizzard syndrome.

M L Kulkarni1, S K Shetty, K S Kallambella

  • 1Department of Pediatrics, Jagadguru Jayadeva Murugarajendra Medical College, Davangere, India.

Indian Journal of Pediatrics
|January 5, 2005
PubMed
Summary
This summary is machine-generated.

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Johanson-Blizzard syndrome is a rare ectodermal disorder. This report details a neonate with typical symptoms and unusual cafe-au-lait spots, expanding the condition's known features.

Area of Science:

  • Medical Genetics
  • Pediatrics
  • Dermatology

Background:

  • Johanson-Blizzard syndrome is an extremely rare genetic disorder affecting ectodermal development.
  • It is characterized by specific facial anomalies, developmental delays, and organ-specific dysfunctions.
  • The condition is presumed to follow an autosomal recessive inheritance pattern.

Observation:

  • A female neonate presented with classic features of Johanson-Blizzard syndrome.
  • The neonate exhibited aplasia/hypoplasia of alae nasi and midline scalp defects.
  • Congenital deafness, hypothyroidism, and exocrine pancreatic insufficiency were also noted.

Findings:

  • The neonate displayed characteristic ectodermal and developmental anomalies associated with Johanson-Blizzard syndrome.

Related Experiment Videos

  • An uncommon finding of cafe-au-lait spots was observed in this patient.
  • This presentation expands the phenotypic spectrum of Johanson-Blizzard syndrome.

    • Implications:

    • This case highlights the importance of recognizing less common features in rare genetic disorders.
    • Early identification of Johanson-Blizzard syndrome is crucial for timely intervention and management.
    • Further research may elucidate the genetic basis for variable expressivity, including skin manifestations.