Article
Ehlers-Danlos syndrome, classical type.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2017
Bowen Jessica M, Sobey Glenda J, Burrows Nigel P, Colombi Marina, Lavallee Mark E, Malfait Fransiska, Francomano Clair A
Abstract excerpt
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
