Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report

RT @MarkELindsay: So this is kind of interesting. Patient with the clinical diagnosis of Larsen syndrome, but reevaluation revealed a nov…

So this is kind of interesting. Patient with the clinical diagnosis of Larsen syndrome, but reevaluation revealed a novel TGFBR2 mutation (LDS) and a COL2A1 nonsense variant (Stickler). Has a very severe vascular phenotype with aortic rupture at age 10.