3 documents found, page 1 of 1
Etiological Investigation of Autism Spectrum Disorders: State of The Art
Gonçalves,Daniel; Guardiano,Micaela; Leão,MiguelAutism Spectrum Disorder is a Neurodevelopmental Disorder characterized by deficits in social interaction and by the presence of restricted, repetitive and stereotyped patterns of behaviours, interests, and activities. The aetiology of Autism Spectrum Disorder is often genetic, with several monogenic diseases clearly associated with this disorder. Significant advances in molecular genetics have increased the ra...
Clinodactyly and syndactyly – diagnostic clues for Andersen-Tawil syndrome
Andrade,Carlos; Meireles,Joana; Leão,Miguel; Silveira,Fernando
Sydenham's chorea in a family with Huntington's disease: case report and review...
Santos-Silva,Rita; Corujeira,Susana; Almeida,Ana Filipe; Granja,Sofia; Moura,Cláudia; Azevedo,Inês; Leão,Miguel; Maia,AnaCONTEXT: Sydenham's chorea affects almost 30% of patients with acute rheumatic fever. It is more frequent in females and is rare in the first decade of life, and genetic vulnerability underlies it. Because of easy access to antibiotics, it is now rare in so-called developed countries. CASE REPORT: A 6-year-old boy with a family history of Huntington's disease, who was the only child of an unscreened and asympto...