Treacher Collins症候群の1例—第1鰓弓症候群をめぐつて

ATYPICAL TREACHER COLLINS SYNDROME,A CASE REPORT

　I．はじめに

　Treacher Collins症候群は，外耳，中耳の奇形を伴うことから，耳鼻科治療の対象となることが多い。

　しかし，Treacher Collinsの名称を付された症例を調べてみると，その内容には変異があり，必ずしも概念が明確でない。一方，最近，第1鰓弓症候群，もしくは，第1第2鰓弓症候群の概念のもとに，顔面奇形の発生学的分類が提唱され，これらの名称を付された報告例がみられる。

　A case of Treacher Collins syndrome, in a 6 year-old boy, is reported.

　The patient showed hypertelorism, antimongoloid slant of the palpebral fissures, hyperplasia of the maxillary and malar bones, high arched palate, stenosis of the external auditory canal and unilateral sensoneurial deafness. Ophthalmologic examination revealed aplasia of the lacrimal puncta and ciliary entropium of the lower lids.

　The origin of the anomalies in this case were suspected to be the abnormal development of the maxillary process of the first branchial arch, and this case was diagnosed as Treacher Collins syndrome.

　Differental diagnosis among syndromes showing anomalies of the face is discussed.