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The branchio-oculo-facial syndrome.
1National Birth Defects Center, Franciscan Children's Hospital, Boston, MA 02135.
Summary
Branchio-oculo-facial (BOF) syndrome is an autosomal dominant disorder with variable expression. Early recognition and multidisciplinary care are crucial for managing its distinctive craniofacial and ocular abnormalities.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- Branchio-oculo-facial (BOF) syndrome is a rare, autosomal dominant disorder.
- It presents with significant phenotypic variability.
- Distinctive craniofacial and ocular anomalies characterize the syndrome.