RESUMO
The Williams-Beuren syndrome is a rare genetic disease. It combines classically specific facial dysmorphism, cardiovascular malformations and specific neuropsychological profile. We report three cases of Williams-Beuren syndrome in children with particular emphasis on vascular abnormalities observed on CT angiography and MR angiography.
Assuntos
Angiografia por Tomografia Computadorizada/métodos , Angiografia por Ressonância Magnética/métodos , Malformações Vasculares/etiologia , Síndrome de Williams/fisiopatologia , Adolescente , Pré-Escolar , Humanos , Masculino , Malformações Vasculares/diagnóstico por imagem , Síndrome de Williams/diagnóstico por imagemRESUMO
Kartagener syndrome is an autosomal recessive genetic ciliary disorder comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. It's the one of primary ciliary dyskinesia disorders with manifestations present from childhood. Most patients of PCD have situs inversus. We present a case of 18 year-old women with recurrent lower and upper respiratory tracts infections, and rhinolalia clausa.