Scott M J, Bronson D M, Esterly N B
Pediatr Dermatol. 1983 Jul;1(1):45-50. doi: 10.1111/j.1525-1470.1983.tb01091.x.
Two children with pili torti (twisted hairs) are reported, one of whom had sensorineural hearing loss. This combination of pili torti and deafness was described as a new genetic entity by Björnstad in 1965. Although light microscopy demonstrated variable numbers of twists along the shafts of hairs obtained from both patients, scanning electron microscopy in both cases revealed flattening and diagonally arranged scalloped defects on only one side of the involved hair shafts rather than true twists. Early auditory testing should be performed in children with pili torti in order to secure early treatment of possible associated hearing loss.
报告了两名患有扭曲发（毛发扭曲）的儿童，其中一名患有感音神经性听力损失。这种扭曲发与耳聋的组合在1965年被比约恩斯塔德描述为一种新的遗传实体。尽管光学显微镜显示从两名患者获取的毛发轴上有不同数量的扭曲，但在这两个病例中，扫描电子显微镜均显示受累毛发轴仅一侧出现变平和对角排列的扇形缺陷，而非真正的扭曲。对于患有扭曲发的儿童应尽早进行听力测试，以便对可能伴发的听力损失进行早期治疗。
