Partsch C J, Hülse M
Laryngol Rhinol Otol (Stuttg). 1975 May;54(5):385-8.
A Treacher Collins-syndrome has been followed up in a family over 3 generations. We found a change in deafness from grand parents- and parents-generation to the third one. The first two showed an inner ear deafness, the latter the well-known conduction deafness. The phenotype becomes more and more extensive in the following generations. Simultaneous with this development the deafness becomes more typical. In theory the inner ear deafness could either be explained as the final stage of a long standing conductive deafness or it is part of an incomplete developed syndrome.
一个患有特雷彻·柯林斯综合征的家族已被追踪了三代人。我们发现从祖父母辈和父母辈到第三代，耳聋情况发生了变化。前两代表现为内耳性耳聋，而第三代则是众所周知的传导性耳聋。在接下来的几代人中，表型变得越来越广泛。与此同时，耳聋也变得越来越典型。从理论上讲，内耳性耳聋既可以解释为长期传导性耳聋的最终阶段，也可能是未完全发育综合征的一部分。
