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Oculo-facio-cardio-dental (OFCD) syndrome
1Department of Orofacial Orthopedics and Orthodontics, Humboldt-University, Berlin, Germany.
Summary
A rare syndrome, oculo-facio-cardio-dental (OFCD) syndrome, is characterized by facial differences, eye defects, heart conditions, and unusual tooth development. This case highlights the distinct features of OFCD syndrome in a young patient.
Area of Science:
- Genetics and rare disease research.
- Ophthalmology and cardiology.
- Pediatric dentistry and craniofacial anomalies.
Background:
- The co-occurrence of facial dysmorphy, congenital cataracts, microphthalmia, heart disease, and dental radiculomegaly is exceptionally rare.
- Recognizing distinct syndromic patterns is crucial for accurate diagnosis and management of complex congenital conditions.
Observation:
- A case report detailing a girl with a unique constellation of symptoms.
- The patient presented with atrial septal defect, unilateral congenital cataract, and unilateral microphthalmia.
- Dental anomalies included radiculomegaly of incisor and canine teeth with open apices and other crown malformations.
Findings:
- The observed combination of ocular, facial, and cardiac abnormalities, alongside significant dental findings, strongly suggests a specific genetic disorder.
- This distinct phenotype aligns with the recently described oculo-facio-cardio-dental (OFCD) syndrome.
Implications:
- This case contributes to the understanding and definition of oculo-facio-cardio-dental (OFCD) syndrome.
- Highlights the importance of multidisciplinary evaluation for patients with overlapping congenital anomalies.
- Aids in the potential identification of genetic underpinnings and future therapeutic targets for OFCD syndrome.