Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Claire GreenNeeti GhaliRhoda AkilapaChloe AngwinDuncan BakerMarion BartlettJessica BowenAngela F BradyJoanna BrockErin ChamberlainHarveer CheemaVivienne McConnellRenarta CrookesHanadi KazkazDiana JohnsonF Michael PopeAnthony VandersteenGlenda SobeyFleur S van DijkPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
We propose a predisposition to tissue fragility, particularly of the gastrointestinal tract in patients with clEDS. As such, clinical and molecular confirmation of this diagnosis is essential. It is recommended to follow up these patients closely to understand the natural history to develop better recommendations for management.