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The temporal bone in the Johanson-Blizzard syndrome. A CT study
J Braun1, A Lerner, R Gershoni-Baruch
1Department of Diagnostic Radiology, Rambam Medical Center, Haifa, Israel.
Pediatric Radiology
|January 1, 1991
Summary
Johanson-Blizzard syndrome can cause inner ear anomalies, specifically bilateral cystic dilatation of the cochlea and vestibulum. These findings may explain the hearing loss observed in affected children.
Area of Science:
- Otolaryngology
- Medical Imaging
- Genetics
Background:
- Johanson-Blizzard syndrome is a rare autosomal recessive disorder.
- It is characterized by developmental abnormalities, including scalp defects, intellectual disability, and hypothyroidism.
- Hearing loss is a recognized but less commonly reported feature.