Taylor C J, Green S H
Dev Med Child Neurol. 1981 Jun;23(3):361-8.
Three new cases of Menkes' kinky-hair syndrome are presented. In each case the diagnosis was confirmed biochemically, but light microscopy failed to demonstrate the characteristic hair changes. However, when scanning electron-microscopy was used, pili torti and trichorrhexis nodosa were seen clearly in the samples taken from each case. In addition, monilethrix, a change noted in other reports, was seen to be an optical effect produced at the point of a twist. Hair samples were obtained from female relatives of the three affected families and were similarly examined. Changes indicative of carrier status were observed in two of the three mothers and also in a normal sister and half-sister.
本文报告了3例新的门克斯卷发综合征病例。每例均经生化检查确诊，但光学显微镜检查未能显示出特征性的毛发改变。然而，当使用扫描电子显微镜时，在取自每例的样本中清晰可见扭曲发和结节性脆发。此外，其他报告中提到的念珠状发被认为是在扭曲点产生的一种光学效应。从三个患病家庭的女性亲属处获取毛发样本并进行了类似检查。在三位母亲中的两位以及一位正常姐妹和同父异母姐妹中观察到了表明携带者状态的改变。
