Treacher-Collins症候群の一例

抄録

A 22-year-old female with typical Treacher-Collins syndrome had an antimongoloid slant of the palpebral fissures, hypoplasia of the malar and mandibular bones, and external acoustic meatuses of pediatric ear speculumpatency. On otoscopic examination, no handle or short process of a malleus, or light cone was seen. The ear drum consisted of thin, purplish-red, membranous tissue showing no differentiation of pars tensa and flaccida. Audiogram showed a typical conductive deafness. Tympanotomy of the left ear disclosed virtual absence of the tympanic cavity with an osseous plate adherent to the tympanic membrane. There was a rudimentary malleus and incus, but no stapes, oval or round window were seen. Postoperatively, a slight improvement in auditory acuity was achieved. This was probably due to the removal of the osseous plate. The patient became possible to use a hearing aid. The present case was compared with other operated cases in Japan, and the anomalous tympanic cavity was discussed from an embryological point of view.