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- W4386389616 abstract "The new 2017 Nosology has made contributions for geneticists and difficulties for clinicians with more robust criteria for hEDS. Also in 2017, exclusion criteria were established for hEDS in the absence of other collagen disorders. In this way, hypermobility spectrum disorders prioritise musculoskeletal manifestations in the presence of jointJoint i hypermobility. It is now evident that these are the same conditions which were established by Kirk, Ansell and Bywaters. Specifically, they refer to the original joint hypermobility syndrome, but now disregarding the benign nature of the disorder. This nomenclature overcomes enormous cultural difficulties, despite now emphasising the pathological issues. There are several subtypes of Ehlers-Danlos syndromes, among which hypermobile Ehlers-Danlos Syndrome, which has the highest frequency. The historical contributions, in particular of Dr. Peter Beighton, are acquired and discussed in this chapter. Medical geneticist Peter Beighton has made diverse contributions to hypermobility and EDS, including the Beighton Method for quantifying the magnitude of jointJoint i hypermobility. This approach was scientifically validated in 1973 and is employed in both clinical practice and research. A numerical score derived from this method was developed during an epidemiological investigation in Africa. and remains among the current criteria for the diagnosis of EDS. Over time, clinicians and geneticists have developed an increased understanding of the characteristics of hypermobility, its disorders and manifestations in the context of hypermobile EDS. Historically, while some have dedicated themselves to genetic factors to explain hereditaryHereditary i connective tissueConnective tissue i disordersConnective tissue disorders i in EDS type III, Kirk, Ansell & Bywaters in 1967 and other rheumatologists have concentrated on clinical issues related to the joints and the overlapping of this syndrome with hereditary connective tissue disorders. Both viewpoints continue to be the focus of discussions to this day." @default.
- W4386389616 created "2023-09-03" @default.
- W4386389616 creator A5014913754 @default.
- W4386389616 creator A5052901341 @default.
- W4386389616 date "2023-01-01" @default.
- W4386389616 modified "2023-09-28" @default.
- W4386389616 title "Ehlers-Danlos Syndromes" @default.
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