Messow K, Götz A, Murken J D, Rodewald A, Riegel K
Z Geburtshilfe Perinatol. 1977 Apr;181(2):129-33.
We report on a newborn male infant suffering from anhidrotic ectodermal dysplasia. This x-linked recesive disorder has a high letality during the first year of life. Survivors are psychologically grossly impaired. This necessitates identification of carrier females. Characteristics of heterocygotes (e.g. palmar ridge flattening, paucety of pores, dermoglyphic pattern) are described. In pregnancy amniocentesis and chromosome analysis for sex determination are to be recommended.
我们报告了一名患有无汗性外胚层发育不良的新生男婴。这种X连锁隐性疾病在生命的第一年具有很高的致死率。幸存者在心理上严重受损。这就需要识别携带者女性。文中描述了杂合子的特征（如手掌嵴变平、毛孔稀少、皮纹模式）。在孕期，建议进行羊膜穿刺术和染色体分析以确定性别。
