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Branchio-oculo-facial syndrome.
1Department of Pediatric Otolaryngology, Hospital for Sick Children, Ontario, Toronto, Canada.
International Journal of Pediatric Otorhinolaryngology
|July 25, 2000
Summary
Branchio-oculo-facial syndrome, a rare disorder, typically presents with craniofacial abnormalities. New cases reveal associated facial nerve paralysis and inner ear issues, expanding the known clinical spectrum of this condition.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- Branchio-oculo-facial (BOF) syndrome is a rare autosomal dominant disorder.
- It is characterized by a distinct phenotype including craniofacial abnormalities such as branchial anomalies, ocular issues, and upper lip pseudoclefts.