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Kabuki syndrome: a case report
1Royal Victoria Hospital, Belfast, UK. Zania_hs_lung@hotmail.com
Journal of Orthodontics
|December 5, 2006
Summary
This case report details an 8-year-old female with Kabuki syndrome, highlighting key oral and dental issues. Early identification of these dental anomalies can aid in diagnosing this rare genetic disorder.
Area of Science:
- Dentistry
- Genetics
- Pediatrics
Background:
- Kabuki syndrome is a rare genetic disorder with distinctive facial features and developmental abnormalities.
- Previously, Kabuki syndrome was believed to occur exclusively in individuals of Japanese descent.
Observation:
- An 8-year-old female patient presented with symptoms consistent with Kabuki syndrome.
- The patient exhibited specific oral and dental manifestations associated with the syndrome.
Findings:
- The patient displayed hypodontia (missing teeth) with significant interdental spacing.
- Abnormal tooth morphology, malocclusion, and a palatal defect in the anterior midline were observed.
- These oral findings are crucial for the clinical diagnosis of Kabuki syndrome.
Implications:
- Recognizing these oral findings can assist clinicians in diagnosing Kabuki syndrome, regardless of ethnicity.
- This case broadens the understanding of Kabuki syndrome's presentation beyond its previously perceived demographic limitations.
- Highlights the importance of comprehensive dental evaluations in diagnosing rare genetic syndromes.
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