Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup R J
Department of Human Genetics, University of Cape Town, South Africa.
Am J Med Genet. 1998 Apr 28;77(1):31-7. doi: 10.1002/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o.
Categorization of the Ehlers-Danlos syndromes began in the late 1960s and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and published in 1988 did not discriminate adequately between the different types of Ehlers-Danlos syndromes or between Ehlers-Danlos syndromes and other phenotypically related conditions. In addition, elucidation of the molecular basis of several Ehlers-Danlos syndromes has added a new dimension to the characterization of this group of disorders. We propose a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type. Major and minor diagnostic criteria have been defined for each type and complemented whenever possible with laboratory findings. This simplified classification will facilitate an accurate diagnosis of the Ehlers-Danlos syndromes and contribute to the delineation of phenotypically related disorders.
埃勒斯-当洛综合征的分类始于20世纪60年代末，并在柏林疾病分类学中得以正式确立。随着时间的推移，很明显1988年制定并公布的诊断标准未能充分区分不同类型的埃勒斯-当洛综合征，也无法区分埃勒斯-当洛综合征与其他表型相关疾病。此外，对几种埃勒斯-当洛综合征分子基础的阐明为这组疾病的特征描述增添了新的维度。我们提议主要基于每种类型的病因对埃勒斯-当洛综合征的分类进行修订。已为每种类型定义了主要和次要诊断标准，并尽可能辅以实验室检查结果。这种简化的分类将有助于准确诊断埃勒斯-当洛综合征，并有助于区分表型相关疾病。
