Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

被引:3
作者
Beighton, P
De Paepe, A
Steinmann, B
Tsipouras, P
Wenstrup, RJ
机构
[1] Univ Connecticut, Ctr Hlth, Dept Pediat, Farmington, CT 06030 USA
[2] Univ Cape Town, Dept Human Genet, ZA-7925 Cape Town, South Africa
[3] State Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium
[4] Univ Zurich, Childrens Hosp, Div Metab & Mol Dis, Zurich, Switzerland
[5] Childrens Hosp Res Fdn, Div Human Genet, Cincinnati, OH 45229 USA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1998年 / 77卷 / 01期
关键词
Ehlers-Danlos syndromes; diagnosis; joint hypermobility; skin extensibility; tissue fragility; arterial rupture; heritable disorders of connective tissue;
D O I
10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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. (C) 1998 Wiley-Liss, Inc.
引用
收藏
页码:31 / 37
页数:7
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