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Am J Med Genet A. 2009 Sep;149A(9):2057-61. doi: 10.1002/ajmg.a.32829.
The need for revisiting the classification of ectodermal dysplasia syndromes has come. Prior to considering a new way to classify this group of disorders, however, thought should be given to some basic ideas about terminology and the process of classification. Consequently, this article reiterates the meanings of the words ectoderm, dysplasia, genetic and syndrome, and describes the process by which numeric taxonomists go about classification. In the process, a new family with the Jorgenson syndrome is described and the inheritance of the Schopf syndrome is clarified. Finally, the backgrounds of those with vested interests in the ectodermal dysplasia syndromes are described in order that all approaches to classification are covered.
重新审视外胚层发育不良综合征分类的必要性已经到来。然而,在考虑一种新的方法来对这组疾病进行分类之前,应该考虑一些关于术语和分类过程的基本概念。因此,本文重申了外胚层、发育不良、遗传和综合征等词的含义,并描述了数字分类学家进行分类的过程。在此过程中,描述了一个具有 Jorgenson 综合征的新家族,并阐明了 Schopf 综合征的遗传方式。最后,描述了那些对外胚层发育不良综合征有既得利益的人的背景,以便涵盖所有的分类方法。