Oral Findings of a Rare Case of Johanson-Blizzard Syndrome: A Case Report
Journal of Dental School,
Vol. 44 No. 1 (2026),
29 December 2025
,
Page e25
https://doi.org/10.22037/jds.v44i1.50876
Abstract
Johanson-Blizzard Syndrome (JBS) is a rare congenital disorder characterized by an autosomal recessive inheritance pattern due to a mutation in the ubiquitin protein ligase E3 component n-recognin 1 (UBR1) gene. Notable features of this syndrome include a beak shaped nose, sensorineural hearing loss, hypothyroidism, pancreatic dysfunction, growth disorders, and dental abnormalities such as generalized microdotia and oligodontia. This study presented the case of a 10-year-old girl who visited the dental department with the chief complaint of absence of permanent teeth eruption. The diagnosis of JBS had been established at an early age through genetic testing, which had revealed a mutation in the UBR1 gene. Clinical observations indicated the presence of a beak shaped nose and hearing impairment in the patient. Clinical and radiographic examinations revealed that the patient's primary teeth were present in normal count, but exhibited microdontia. Additionally, only the first permanent molars were formed and visible in the oral cavity, while the buds of other permanent teeth were not observed on radiographic evaluation. Rare syndromes such as Johanson-Blizzard can have significant effects on dental structures, requiring specialized care and treatment planning.
- Johanson–Blizzard Syndrome
- Oral Manifestations
- Sensorineural Deafness
How to Cite
References
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