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I.はじめに
耳鼻咽喉科領域の奇形として,耳介奇形,先天性耳瘻孔,唇裂,口蓋裂,舌小帯短縮症等は,日常診療でよく見られるし,側頸部瘻孔も稀ではない。さらに上記の奇形の2,3が合併することもある。またこれらの奇形の家族集積性も,古くから知られている。しかし,これら重複奇形が一家族に多発したという報告はない。今回我々は,これらの重複奇形が,一家族5名中4名に多発し,男性においては,染色体異常も伴っていた症例を診察する機会を得たので,報告する。
Multiple malformations of the head and neck accompanied with Y-chromosomal abnolmality are very rare.
In a family, four patients had multiple malformations in the head and neck region. Three patients were male and one patient was female. Their malformations were auricular malformation, congenital auricular fistula, lip malformation, tonguetie, cleft palate and lateral cirvical fistula.
All three male patients had the structural abnormality of the Y-chromosome, 46Xinv (Yp+q-).
These multiple malformations and Y-chromosomal abnormality were discribed and their problems were discussed.
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