Encontrados 2 documentos, a visualizar página 1 de 1
A complex chromosomal rearrangement in a child with developmental delay, fracti...
Simão, Laurentino; Alves, Cristina; Brito, Filomena; Marques, Bárbara; Ferreira, Cristina; Gaspar, Isabel; Dieudonne, V.; Cabral, P.; Meneses, I.Smith-Magenis Syndrome (SMS) is a micro-deletion syndrome, and encompasses a picture of dysmorphology, mental defect, and fractious behavior. Evaluation of complex chromosome rearrangements (CCRs) and their potential phenotypic consequences is a common challenge in the genetics clinic and knowledge about the genotype/phenotype relationships are limited. We report the case of a 14-year-old boy who was referred...
A case of Legionella pneumophila pneumonia.
Correia, M; Unidade de Cuidados Especiais, Hospital de Santa Maria, Lisboa.; Dieudonné, V; Almeida, H; Bandeira, T; Lito, L; Rodrigues, G; Sequeira, SLegionella pneumophila is an uncommon cause of pneumonia, mainly in children. We present a case with aggressive disease and unfavourable outcome. The diagnosis was established by serum antibody detection and immunofluorescence and culture of a fragment of lung tissue obtained at necropsy. We focus the importance of this aetiology in nosocomial pneumonia and community-acquired pneumonia with an atypical evolutio...
| Financiadores do RCAAP | |||||||
|
|
|
|
|
|
||