Branchio-oto（BO）症候群の2症例—本邦における報告例の検討

Branchio-oto (BO) Syndrome:Report of Two Cases

　はじめに

　鰓原性奇形（側頸瘻，耳瘻孔，外耳奇形），難聴（内耳，中耳奇形），腎形成不全のある症候群を，1975年にMelnickら^1）はbranchio-oto-renaldysplasiaと称し，常染色体性優性遺伝性疾患であると報告した。しかし，Cremersら^2），Fraserら^3）の報告以後は，腎奇形を伴わないbranchio-oto syndromeも同じ範疇に入る症候群とされるようになった。

　今回われわれは，両側頸瘻，耳瘻孔，両側混合性難聴があり，母親に同様の症候群のある2症例を経験したので報告し，併せて本邦において過去に報告された本症候群36例について考察する。

Branchio-oto (BO) and branchio-oto-renal (BOR) syndrome are an autosomal dominant genetic dis-order involving hearing loss, preauricural pits, bran-chial fistulas or cysts, and renal anomalies ranging from mild hypoplasia to complete absence.

We presented a 2-month-old girl with bilateral preauricular pits, bilateral cervical fistulas, mixed type of bilateral hearing loss, and a slight enlarge-ment of the left renal pelvis (IVP). Her mother also had bilateral preauricural pits, bilateral cervical fistulas and mixed type of hearing loss.

We also showed a 5-month-old boy with bilateral preauricular pits, bilateral cervical fistulas, and mixed type of hearing loss. His mother also had mixed type of hearing loss and bilateral ear deform-ity.