| Popis: |
Branchio-Oto-Renal (BOR) syndrome is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities. BOR syndrome is caused by mutations in EYA1 and SIX1 which are critical to organogenesis and are expressed together in developing otic, branchial and renal tissue. Branchio-Otic (BO) syndrome comprises branchial fistulas and preauricular pits, but lacks renal anomalies. We present a rare case report of Branchio?otic syndrome in a 5 year old kid. |
