SERRA G.

The Authors describe a interesting case of congenital lobar emphysema in a newborn with low-birth weight, asphixya and respiratory distress. The diagnosis was made on the basis of symptoms at onset and early and late radiographic examinations. Mechanical ventilation through selective intubation, allows to resolve the acute respiratory distress,...

Background: 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation:...

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Background: The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500-1:3000 individuals). It is caused by mutations...