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Oro-facial-digital syndrome type 1: a case report
Kanika Singh Dhull1, Sonu Acharya, Mamta Mohanty
1Department of Pedodontics and Preventive Dentistry, Kalinga Institute of Dental Sciences, KIIT University, India, .
Summary
Oro-Facial Digital Syndrome type I (OFDS-I) is a rare genetic disorder affecting oral and facial development. This case report details a 13-year-old Asian patient diagnosed with OFDS-I presenting with discolored front teeth.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Dentistry
Background:
- Oro-Facial Digital Syndrome (OFDS) encompasses a group of rare genetic disorders.
- OFDS type I (OFDS-I) is characterized by distinct anomalies in oral, facial, and digital development.
- OFDS-I is infrequently documented in Asian populations.
Observation:
- A 13-year-old patient presented with a chief complaint of discolored upper anterior teeth.
- The patient was diagnosed with Oro-Facial Digital Syndrome type I.
- This case highlights a rare occurrence of OFDS-I in an Asian country.
Findings:
- The case report documents the clinical presentation and diagnosis of OFDS-I in a pediatric patient.
- It emphasizes the rarity of OFDS-I in Asian demographics.
- The patient's primary dental concern was related to tooth discoloration.
Implications:
- This report contributes to the limited literature on OFDS-I in Asian individuals.
- It underscores the importance of recognizing rare genetic syndromes in pediatric dental patients.
- Further research may elucidate the prevalence and specific manifestations of OFDS-I in diverse ethnic groups.

