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Branchio-oto-renal syndrome
B Millman1, W S Gibson, W P Foster
1Department of Otolaryngology, Geisinger Medical Center, Danville, Pa, USA.
Archives of Otolaryngology--Head & Neck Surgery
|August 1, 1995
Summary
Branchio-oto-renal (BOR) syndrome is a rare genetic disorder causing branchial cleft, ear, and kidney issues. Early recognition in children with hearing loss and neck remnants is crucial for diagnosis and management.
Area of Science:
- Genetics
- Otolaryngology
- Pediatrics
Background:
- Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder.
- It is characterized by branchial cleft, otologic, and renal anomalies.
Observation:
- A family spanning three generations presented with branchial cleft and otologic anomalies, including hearing loss.
- This case highlights the hereditary nature and varied presentation of BOR syndrome.
Findings:
- The study reviews literature on BOR syndrome's clinical presentations, associated findings, and differential diagnoses.
- BOR syndrome exhibits variable penetrance and expression, complicating diagnosis.
Implications:
- Otolaryngologists should consider BOR syndrome in children with hearing loss and branchial cleft remnants.
- Timely diagnosis is essential for managing associated renal anomalies and other complications.