Dissecção Aórtica; Síndrome de Loeys-Dietz; Humanos; Síndrome de Loeys-Dietz/diagnóstico; Síndrome de Loeys-Dietz/genética; Mutação; Receptores de Fatores de Crescimento Transformadores beta/genética

Acetabular protrusion; Amblyopia; Aneurysm- osteoarthritis syndrome; Aortic aneurysm with tortuosity; Aortic dissection; Arachnodactyly; Bifid uvula/cleft palate; Blue sclerae; Cervical spine malformation; Craniosynostosis; Cutis laxa; Dilatation of aortic root; Dystrophic scars; Easy bruising; Familial thoracic aortic aneurysm; Hypertelorism; Increased TGFß signalling; Joint laxity; Loeys-Dietz syndrome; MYH11 and MYLK; Mutations in ACTA2; Mutations in SKI; Mutations in TGFBR1; Myopia; Osteoporosis; Overlap with Marfan and Ehlers-Danlos syndrome; Pectus excavatum or pectus carinatum; Peripartal uterine rupture; Pes planus; Retrognathia; SMAD3 or TGFB2; Scoliosis; Shprintzen-Goldberg syndrome; Spondylolisthesis; Spontaneous bowel rupture; Strabismus; TGFBR2; Talipes equinovarus; Translucent skin