Pinheiro M, Freire-Maia N
Am J Med Genet. 1979;4(2):123-8. doi: 10.1002/ajmg.1320040203.
We describe 13 males with Christ-Siemens-Touraine syndrome from one family. History and examination were supplemented by three sweat tests and dermatolglyphic analysis. Some of the patients had two uncommon findings (onychodystrophy and excessive lacrimation), and five had an "incomplete" form of the syndrome. Four signs (distal phalanges of fingers and toes radially and tibially deviated, respectively; facial hypochromic spots; large occipitofrontal circumference) seem to be described for the first time. The segregation proportion in the sibships with at least an affected male was found to be normal (1:1) in 44 series of data (43 from the literature), where a high ascertainment bias was present (155 affected and 68 normal males).
我们描述了来自一个家族的13名患有克里斯蒂 - 西门子 - 图赖讷综合征的男性。通过三次汗液测试和皮纹分析对病史和检查进行了补充。部分患者有两项不常见的表现（甲营养不良和泪液过多），五名患者患有该综合征的“不完全”形式。四种体征（手指和脚趾的远端指骨分别向桡侧和胫侧偏斜；面部色素减退斑；枕额周长增大）似乎是首次被描述。在至少有一名患病男性的同胞组中，在44组数据（43组来自文献）中发现分离比例正常（1:1），其中存在高度的确诊偏倚（155名患病男性和68名正常男性）。
