Young M W, Rick S, Nurse G T
P N G Med J. 1980 Dec;23(4):169-73.
A large kindred from Bwaidoga village in south-eastern Goodenough Island is described, in which occur several cases of what appear to be the Pendred syndrome: deafness associated with goitre. It is possible that deviations from the more usual pattern of the syndrome may be due to its having arisen from a spontaneous mutation, not identical with the mutation seen elsewhere.
本文描述了来自古迪纳夫岛东南部布瓦伊多加村的一个大家族,其中出现了几例疑似彭德莱德综合征的病例:即与甲状腺肿相关的耳聋。该综合征与更常见的模式存在差异,可能是由于它源自一种自发突变,与其他地方所见的突变不同。