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Orofaciodigital syndrome I: a case report
S Gunbay1, B Zeytinoglu, F Ozkinay
1Ege University, Dental Faculty, Oral and Maxillofacial Surgery Department, Izmir, Turkey.
The Journal of Clinical Pediatric Dentistry
|July 1, 1996
Summary
Orofaciodigital syndrome I (OFD I) is a genetic disorder impacting the face, jaw, and digits. This condition presents unique challenges for pediatric dentistry due to its significant maxillofacial features.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Dentistry
Background:
- Orofaciodigital syndrome I (OFD I) is a rare genetic disorder characterized by a spectrum of congenital anomalies.
- It primarily affects craniofacial structures, limbs, and neurological development.
Observation:
- Key features include abnormalities of the tongue (e.g., cleft tongue), palate (e.g., cleft palate), lip (e.g., pseudocleft), and nasal cartilages.
- Dental anomalies such as hypodontia and malocclusion are common.
- Limb malformations, including syndactyly and polydactyly, and mild intellectual disability may also be present.
Findings:
- OFD I exhibits an X-linked dominant inheritance pattern.
- The condition is typically lethal in males, with affected females presenting with variable expressivity.
Implications:
- The significant maxillofacial and dental manifestations of OFD I underscore its importance in pediatric dentistry.
- Early diagnosis and management are crucial for addressing functional and esthetic concerns.
- Further research into the genetic basis and therapeutic strategies for OFD I is warranted.