Arbisser A I, Scott C I, Howell R R, Ong P S, Cox H L
Birth Defects Orig Artic Ser. 1976;12(5):219-28.
We have presented 2 affected sibs-a male and female-with unaffected parents and sib from a small remote northern Mexican village. The syndrome includes mental deficit, brittle hair with decreased cuticular layer and an apparently collapsed cortex. The patients' hair contains decreased sulfur content and increased concentrations of trace elements as determined by x-ray fluorescent spectroscopy. Studies are underway to evaluate other apparently similarly affected children from the village where our family originated.
我们报告了来自墨西哥北部一个偏远小村庄的一对患病同胞(一男一女),其父母和其他同胞未患病。该综合征包括智力缺陷、角质层变薄的脆发以及明显萎缩的皮质。通过X射线荧光光谱法测定,患者头发中的硫含量降低,微量元素浓度升高。我们正在对来自患者家族所在村庄的其他明显类似患病儿童进行评估。